Product Details

SNP ID

rs201243203

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:24586226 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAGGCGGGGCAGCGCCCACAGG[A/C]TGGGCAGCAGGAGGTGCAGCAGCTC

Phenotype

MIM: 612346

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GGT1 PubMed Links

Gene Details

Gene

GGT1

Gene Name

gamma-glutamyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288833.1	637	Intron			NP_001275762.1
NM_013421.2	637	Intron			NP_038265.2
NM_013430.2	637	Intron			NP_038347.2

Gene

LRRC75B

Gene Name

leucine rich repeat containing 75B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207644.2	637	Missense Mutation	AGC,ATC	S203I	NP_997527.2
XM_005261600.2	637	Intron			XP_005261657.1

View Full Product Details