Version: 8.0.0Date: Tue Jan 28 2025
Category
SEPTIN12
(Homo sapiens)Gene
Name: septin 12
Synonyms: SPGF10, SEPT12, testicular tissue protein Li 168, FLJ25410, septin-12
Source: HGNC:26348
Biotype: protein coding gene
Synonyms: SEPT12...SEPT12
septin12
(Danio rerio)Gene
Name: septin 12
Synonyms: si:dkey-23a11.2, sept12
Source: ZFIN:ZDB-GENE-120215-68
Biotype: protein coding gene
Synonyms: sept12...sept12...sept12
Septin12
(Rattus norvegicus)Gene
Name: septin 12
Synonyms: similar to Hypothetical protein FLJ25410, Sept12, LOC363542, septin-12
Source: RGD:1565511
Biotype: protein coding gene
Synonyms: Sept12...Sept12
Septin12
(Mus musculus)Gene
Name: septin 12
Synonyms: RIKEN cDNA 4933413B09 gene, RIKEN cDNA 1700028G04 gene, Sept12, 4933413B09Rik, 1700028G04Rik
Source: MGI:1918339
Biotype: protein coding gene
Synonyms: Sept12...Sept12
la028890Tg
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-130129-2917
Genes: septin12 (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Gene Synonyms: sept12
Septin12tm1.1Plk
(Mus musculus)Allele/Variant
Source: MGI:3843373
Genes: Septin12 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Gene Synonyms: Sept12
Septin12em1Lych
(Mus musculus)Allele/Variant
Source: MGI:7280674
Genes: Septin12 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Gene Synonyms: Sept12
Disease
Source: DOID:0070178
Definition: A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.
(GRCh38)16:4787361T>C
(Homo sapiens)Allele/Variant
Source: rs741695
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4787361T>C
Gene Synonyms: SEPT12
(GRCh38)16:4787605G>A
(Homo sapiens)Allele/Variant
Source: rs1222963313
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4787605G>A
Gene Synonyms: SEPT12
(GRCh38)16:4786006G>A
(Homo sapiens)Allele/Variant
Source: rs199696526
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4786006G>A
Gene Synonyms: SEPT12
(GRCh38)16:4783959C>T
(Homo sapiens)Allele/Variant
Source: rs144420035
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783959C>T
Gene Synonyms: SEPT12
(GRCh38)16:4777892C>T
(Homo sapiens)Allele/Variant
Source: NC_000016.10:g.4777892C>T
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4777892C>T
Gene Synonyms: SEPT12
(GRCh38)16:4777942C>T
(Homo sapiens)Allele/Variant
Source: rs754691326
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4777942C>T
Gene Synonyms: SEPT12
(GRCh38)16:4778101C>G
(Homo sapiens)Allele/Variant
Source: NC_000016.10:g.4778101C>G
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4778101C>G
Gene Synonyms: SEPT12
(GRCh38)16:4779769G>A
(Homo sapiens)Allele/Variant
Source: rs147729577
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4779769G>A
Gene Synonyms: SEPT12
(GRCh38)16:4783494T>C
(Homo sapiens)Allele/Variant
Source: rs1386572291
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783494T>C
Gene Synonyms: SEPT12
(GRCh38)16:4777901G>T
(Homo sapiens)Allele/Variant
Source: rs201819328
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4777901G>T
Gene Synonyms: SEPT12
(GRCh38)16:4784167C>T
(Homo sapiens)Allele/Variant
Source: rs8043725
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4784167C>T
Gene Synonyms: SEPT12
(GRCh38)16:4777826C>T
(Homo sapiens)Allele/Variant
Source: rs375747537
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4777826C>T
Gene Synonyms: SEPT12
(GRCh38)16:4785832C>T
(Homo sapiens)Allele/Variant
Source: rs369410288
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4785832C>T
Gene Synonyms: SEPT12
(GRCh38)16:4787964T>C
(Homo sapiens)Allele/Variant
Source: rs12924244
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4787964T>C
Gene Synonyms: SEPT12
(GRCh38)16:4777850G>A
(Homo sapiens)Allele/Variant
Source: rs201762608
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4777850G>A
Gene Synonyms: SEPT12
(GRCh38)16:4783762G>A
(Homo sapiens)Allele/Variant
Source: rs763481191
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783762G>A
Gene Synonyms: SEPT12
(GRCh38)16:4777943G>A
(Homo sapiens)Allele/Variant
Source: rs376660617
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4777943G>A
Gene Synonyms: SEPT12
(GRCh38)16:4787629C>T
(Homo sapiens)Allele/Variant
Source: rs746750799
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4787629C>T
Gene Synonyms: SEPT12
(GRCh38)16:4787618G>C
(Homo sapiens)Allele/Variant
Source: NC_000016.10:g.4787618G>C
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4787618G>C
Gene Synonyms: SEPT12
(GRCh38)16:4787624G>A
(Homo sapiens)Allele/Variant
Source: rs753974069
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4787624G>A
Gene Synonyms: SEPT12
(GRCh38)16:4783729A>T
(Homo sapiens)Allele/Variant
Source: rs142539985
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783729A>T
Gene Synonyms: SEPT12
(GRCh38)16:4783998G>A
(Homo sapiens)Allele/Variant
Source: rs751433092
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783998G>A
Gene Synonyms: SEPT12
(GRCh38)16:4779725A>T
(Homo sapiens)Allele/Variant
Source: rs202006830
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4779725A>T
Gene Synonyms: SEPT12
(GRCh38)16:4784377A>C
(Homo sapiens)Allele/Variant
Source: rs12443659
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4784377A>C
Gene Synonyms: SEPT12
(GRCh38)16:4785847C>T
(Homo sapiens)Allele/Variant
Source: rs141666105
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4785847C>T
Gene Synonyms: SEPT12
(GRCh38)16:4779735C>T
(Homo sapiens)Allele/Variant
Source: rs754985476
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4779735C>T
Gene Synonyms: SEPT12
(GRCh38)16:4784383C>T
(Homo sapiens)Allele/Variant
Source: rs12446462
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4784383C>T
Gene Synonyms: SEPT12
(GRCh38)16:4783488C>T
(Homo sapiens)Allele/Variant
Source: rs1415223925
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783488C>T
Gene Synonyms: SEPT12
(GRCh38)16:4783522G>C
(Homo sapiens)Allele/Variant
Source: rs574562030
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783522G>C
Gene Synonyms: SEPT12
(GRCh38)16:4783498C>G
(Homo sapiens)Allele/Variant
Source: rs144953080
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783498C>G
Gene Synonyms: SEPT12
(GRCh38)16:4787536T>G
(Homo sapiens)Allele/Variant
Source: rs139386680
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4787536T>G
Gene Synonyms: SEPT12
(GRCh38)16:4783974G>A
(Homo sapiens)Allele/Variant
Source: rs765951766
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783974G>A
Gene Synonyms: SEPT12
(GRCh38)16:4783653C>T
(Homo sapiens)Allele/Variant
Source: rs779591455
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783653C>T
Gene Synonyms: SEPT12
(GRCh38)16:4777828C>T
(Homo sapiens)Allele/Variant
Source: rs773794575
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4777828C>T
Gene Synonyms: SEPT12
(GRCh38)16:4783490T>C
(Homo sapiens)Allele/Variant
Source: rs781751461
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783490T>C
Gene Synonyms: SEPT12
(GRCh38)16:4783510C>T
(Homo sapiens)Allele/Variant
Source: rs1200710924
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783510C>T
Gene Synonyms: SEPT12
(GRCh38)16:4783971C>G
(Homo sapiens)Allele/Variant
Source: rs764990095
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783971C>G
Gene Synonyms: SEPT12
(GRCh38)16:4784049A>C
(Homo sapiens)Allele/Variant
Source: rs1397725454
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4784049A>C
Gene Synonyms: SEPT12
(GRCh38)16:4783420A>G
(Homo sapiens)Allele/Variant
Source: rs7201715
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783420A>G
Gene Synonyms: SEPT12
(GRCh38)16:4783221T>C
(Homo sapiens)Allele/Variant
Source: rs35853112
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783221T>C
Gene Synonyms: SEPT12
(GRCh38)16:4780067G>C
(Homo sapiens)Allele/Variant
Source: rs8060334
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4780067G>C
Gene Synonyms: SEPT12
(GRCh38)16:4783969C>T
(Homo sapiens)Allele/Variant
Source: rs759991
Genes: SEPTIN12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)16:4783969C>T
Gene Synonyms: SEPT12