Product Details
- SNP ID
-
rs60379405
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:34882856 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GACTCCATGCCCTGGCCCATTCCTT[C/T]GGTACAACTTTGATGTGACTAAAGG
- Phenotype
-
MIM: 605832
MIM: 612342
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ACSS2
PubMed Links
Gene Details
- Gene
- ACSS2
- Gene Name
- acyl-CoA synthetase short-chain family member 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001076552.2 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
NP_001070020.2 |
| NM_001242393.1 |
315 |
UTR 5 |
|
|
NP_001229322.1 |
| NM_018677.3 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
NP_061147.1 |
| XM_005260455.1 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
XP_005260512.1 |
| XM_005260456.1 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
XP_005260513.1 |
| XM_006723826.1 |
315 |
UTR 5 |
|
|
XP_006723889.1 |
| XM_011528905.1 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
XP_011527207.1 |
| XM_011528906.1 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
XP_011527208.1 |
| XM_011528907.1 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
XP_011527209.1 |
| XM_011528908.1 |
315 |
Missense Mutation |
CGG,TGG |
R81W |
XP_011527210.1 |
| XM_011528909.2 |
315 |
Missense Mutation |
CGG,TGG |
R31W |
XP_011527211.1 |
| XM_011528911.1 |
315 |
Missense Mutation |
CGG,TGG |
R31W |
XP_011527213.1 |
| XM_011528912.2 |
315 |
UTR 5 |
|
|
XP_011527214.1 |
- Gene
- GGT7
- Gene Name
- gamma-glutamyltransferase 7
There are no transcripts associated with this gene.
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