Version: 8.0.0
Date: Tue Jan 28 2025
rs775557693
Variant overlaps PGAP4
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs775557693

Species
Homo sapiens
Symbol
rs775557693
Category
Variant
Variant type
SNP
Overlaps
PGAP4
Location
9:101475940
Nucleotide Change
C>A
Most Severe Consequence
  • intron variant&non coding transcript variant
See all consequences
HGVS.g name
  • NC_000009.12:g.101475940C>A
HGVS.c name
  • ENSEMBL:ENST00000374847.5:c.1153G>T
  • ENSEMBL:ENST00000374848.8:c.1153G>T
HGVS.p name
  • ENSP00000363980:p.Val385Leu
  • ENSP00000363981:p.Val385Leu
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available
Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
ENSEMBL:ENST00000374847.5
protein_codingPGAP4Exon 3/3
  • missense variant
1153GtgN/A
[385]V/LN/A
=>
Ttg
V/L
ENSEMBL:ENST00000374848.8
protein_codingPGAP4Exon 2/2
  • missense variant
1153GtgN/A
[385]V/LN/A
=>
Ttg
V/L
ENSEMBL:ENST00000374851.1
protein_codingPGAP4Exon 4/4
  • missense variant
1153GtgN/A
[385]V/LN/A
=>
Ttg
V/L
ENSEMBL:ENST00000424154.6
lnc_RNATMEM246-AS1Intron 1/2
  • intron variant
ENSEMBL:ENST00000425734.1
lnc_RNATMEM246-AS1Intron 1/2
  • intron variant
ENSEMBL:ENST00000431507.5
lnc_RNATMEM246-AS1Intron 1/1
  • intron variant
ENSEMBL:ENST00000450109.5
lnc_RNATMEM246-AS1Intron 2/3
  • intron variant
RefSeq:NM_001303108.2
protein_codingPGAP4Exon 2/2
  • missense variant
1153GtgN/A
[385]V/LN/A
=>
Ttg
V/L
RefSeq:NM_001371233.1
protein_codingPGAP4Exon 2/2
  • missense variant
1153GtgN/A
[385]V/LN/A
=>
Ttg
V/L
RefSeq:NR_121575.1
ncRNATMEM246-AS1Intron 1/2
  • intron variant
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