Product Details

SNP ID
rs199894924
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:34928904 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTGCATGCTCGATGGCTTTGGTT[C/T]GAAGTAGATGCCCCACGTGCTTGTT
Phenotype
MIM: 605832 MIM: 601002
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 1448 Intron NP_001070020.2
NM_001242393.1 1448 Intron NP_001229322.1
NM_018677.3 1448 Intron NP_061147.1
XM_005260455.1 1448 Intron XP_005260512.1
XM_005260456.1 1448 Intron XP_005260513.1
XM_006723826.1 1448 Intron XP_006723889.1
XM_011528905.1 1448 Intron XP_011527207.1
XM_011528906.1 1448 Intron XP_011527208.1
XM_011528907.1 1448 Intron XP_011527209.1
XM_011528908.1 1448 Intron XP_011527210.1
XM_011528909.2 1448 Intron XP_011527211.1
XM_011528911.1 1448 Intron XP_011527213.1
XM_011528912.2 1448 Intron XP_011527214.1
Gene
GSS
Gene Name
glutathione synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000178.3 1448 Missense Mutation CAA,CGA Q450R NP_000169.1
NM_001322494.1 1448 Missense Mutation CAA,CGA Q450R NP_001309423.1
NM_001322495.1 1448 Missense Mutation CAA,CGA Q450R NP_001309424.1

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