Product Details

SNP ID

rs139744845

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:63017540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAATAAAATGCGGTTTTCACAGCA[C/T]TAGGTGCATGGGAAATGCCATCCAA

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	1071	Missense Mutation	AAT,AGT	N263S	NP_003869.1
XM_011517623.2	1071	Intron			XP_011515925.1

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