Product Details
- SNP ID
-
rs116939630
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:60754695 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AACCTCTGACCTTTGGTGTAAGCAC[A/G]GTACCAAAAATGGAGAAAGAGCAGC
- Phenotype
-
MIM: 614451
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ELOVL7
PubMed Links
Gene Details
- Gene
- ELOVL7
- Gene Name
- ELOVL fatty acid elongase 7
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001104558.1 |
1342 |
Missense Mutation |
CGT,TGT |
R259C |
NP_001098028.1 |
NM_001297617.1 |
1342 |
Missense Mutation |
CGT,TGT |
R246C |
NP_001284546.1 |
NM_001297618.1 |
1342 |
Missense Mutation |
CGT,TGT |
R172C |
NP_001284547.1 |
NM_024930.2 |
1342 |
Missense Mutation |
CGT,TGT |
R259C |
NP_079206.2 |
XM_005248606.4 |
1342 |
Missense Mutation |
CGT,TGT |
R259C |
XP_005248663.1 |
XM_005248607.3 |
1342 |
Missense Mutation |
CGT,TGT |
R246C |
XP_005248664.1 |
XM_006714695.3 |
1342 |
Missense Mutation |
CGT,TGT |
R259C |
XP_006714758.1 |
XM_011543651.2 |
1342 |
Missense Mutation |
CGT,TGT |
R259C |
XP_011541953.1 |
XM_017009885.1 |
1342 |
Missense Mutation |
CGT,TGT |
R259C |
XP_016865374.1 |
XM_017009886.1 |
1342 |
Missense Mutation |
CGT,TGT |
R246C |
XP_016865375.1 |
XM_017009887.1 |
1342 |
Missense Mutation |
CGT,TGT |
R246C |
XP_016865376.1 |
XM_017009888.1 |
1342 |
Intron |
|
|
XP_016865377.1 |
XM_017009889.1 |
1342 |
Intron |
|
|
XP_016865378.1 |
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