25 results for spp-11

spp-11

(Caenorhabditis elegans)
Gene
Name: SaPosin-like Protein family 11
Synonyms: T25D10.3, CELE_T25D10.3
Source: WB:WBGene00004996
Biotype: protein coding gene
Symbol: spp-11 (Cel)
Symbol: spp-11
Cross References: spp-11...WB:spp-11...spp-11

PRX

(Homo sapiens)
Gene
Name: periaxin
Synonyms: KIAA1620, CMT4F
Source: HGNC:13797
Biotype: protein coding gene
Strict Orthology Symbols: spp-11

Source: DOID:0110193
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.
Genes: spp-11 (Cel)

Source: DOID:0050540
Definition: A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
Genes: spp-11 (Cel)

(WBcel235)II:6406372C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406372C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406372C>T
Gene Cross References: spp-11

(WBcel235)II:6405760A>C

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6405760A>C
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6405760A>C
Gene Cross References: spp-11

(WBcel235)II:6406008C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406008C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406008C>T
Gene Cross References: spp-11

(WBcel235)II:6407004G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6407004G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6407004G>A
Gene Cross References: spp-11

(WBcel235)II:6407021G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6407021G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6407021G>A
Gene Cross References: spp-11

(WBcel235)II:6406021C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406021C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406021C>T
Gene Cross References: spp-11

(WBcel235)II:6406796G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406796G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406796G>A
Gene Cross References: spp-11

(WBcel235)II:6406840A>G

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406840A>G
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406840A>G
Gene Cross References: spp-11

(WBcel235)II:6406934C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406934C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406934C>T
Gene Cross References: spp-11

(WBcel235)II:6405453G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6405453G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6405453G>A
Gene Cross References: spp-11

(WBcel235)II:6405637G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6405637G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6405637G>A
Gene Cross References: spp-11

(WBcel235)II:6405648C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6405648C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_donor_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6405648C>T
Gene Cross References: spp-11

(WBcel235)II:6405475C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6405475C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6405475C>T
Gene Cross References: spp-11

(WBcel235)II:6406682G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406682G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406682G>A
Gene Cross References: spp-11

(WBcel235)II:6407058G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6407058G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6407058G>A
Gene Cross References: spp-11

(WBcel235)II:6407064T>C

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6407064T>C
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6407064T>C
Gene Cross References: spp-11

(WBcel235)II:6405701C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6405701C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6405701C>T
Gene Cross References: spp-11

(WBcel235)II:6406899G>A

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406899G>A
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406899G>A
Gene Cross References: spp-11

(WBcel235)II:6406006T>C

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406006T>C
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406006T>C
Gene Cross References: spp-11

(WBcel235)II:6406016C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406016C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406016C>T
Gene Cross References: spp-11

(WBcel235)II:6406639C>T

(Caenorhabditis elegans)
Allele/Variant
Source: NC_003280.10:g.6406639C>T
Genes: spp-11 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, intron_variant
Diseases: Not Available
Variant Name: (WBcel235)II:6406639C>T
Gene Cross References: spp-11