Product Details

SNP ID

rs111541291

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:63017624 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACTGGACACCATATACTGGATAC[C/T]TATATCCTGTAAGAAGAACACAAAT

Phenotype

MIM: 601509

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GGH PubMed Links

Gene Details

Gene

GGH

Gene Name

gamma-glutamyl hydrolase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003878.2	987	Missense Mutation	AAG,AGG	K235R	NP_003869.1
XM_011517623.2	987	Intron			XP_011515925.1

View Full Product Details