Version: 8.0.0
Date: Tue Jan 28 2025
rs200861169
Variant overlaps SLC6A6
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs200861169

Species
Homo sapiens
Symbol
rs200861169
Category
Variant
Variant type
SNP
Overlaps
SLC6A6
Location
3:14484951
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)3:14484951G>A
HGVS.c name
  • ENSEMBL:ENST00000613060.4:c.2110G>A
  • ENSEMBL:ENST00000618278.4:n.2003G>A
HGVS.p name
  • ENSP00000480890:p.Val603Ile
  • ENSP00000481625:p.Val704Ile
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:ENST00000613060.4
protein_codingSLC6A6Exon 15/15
  • missense variant
2110GtcN/A
[704]V/IN/A
=>
Atc
V/I
ENSEMBL:ENST00000618278.4
transcriptSLC6A6Exon 14/14
  • non coding transcript exon variant
ENSEMBL:ENST00000622186.5
protein_codingSLC6A6Exon 15/15
  • missense variant
1807GtcN/A
[603]V/IN/A
=>
Atc
V/I
ENSEMBL:ENST00000649500.1
transcriptSLC6A6Exon 15/15
  • non coding transcript exon variant
RefSeq:NM_001134367.3
protein_codingSLC6A6Exon 15/15
  • missense variant
2110GtcN/A
[704]V/IN/A
=>
Atc
V/I
RefSeq:NM_003043.6
protein_codingSLC6A6Exon 15/15
  • missense variant
1807GtcN/A
[603]V/IN/A
=>
Atc
V/I
RefSeq:NR_103507.3
transcriptSLC6A6Exon 14/14
  • non coding transcript exon variant
RefSeq:XM_006713307.3
protein_codingSLC6A6Exon 14/14
  • missense variant
1894GtcN/A
[632]V/IN/A
=>
Atc
V/I
RefSeq:XM_011534030.2
protein_codingSLC6A6Exon 14/14
  • missense variant
1807GtcN/A
[603]V/IN/A
=>
Atc
V/I
RefSeq:XM_047448762.1
protein_codingSLC6A6Exon 14/14
  • missense variant
1294GtcN/A
[432]V/IN/A
=>
Atc
V/I
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