Product Details

SNP ID

rs199658514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:34929527 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTCCATGAGGATGTAGGAGGCC[A/C]TCTCCTCACTGTCCTTCAGCTGTTT

Phenotype

MIM: 605832 MIM: 601002

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ACSS2 PubMed Links

Gene Details

Gene

ACSS2

Gene Name

acyl-CoA synthetase short-chain family member 2

There are no transcripts associated with this gene.

Gene

GSS

Gene Name

glutathione synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000178.3	1274	Missense Mutation	AGG,ATG	R392M	NP_000169.1
NM_001322494.1	1274	Missense Mutation	AGG,ATG	R392M	NP_001309423.1
NM_001322495.1	1274	Missense Mutation	AGG,ATG	R392M	NP_001309424.1

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