Product Details

SNP ID

rs61743719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24606638 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATTGTTCTCTTTATCCAGGGCA[A/G]GAAGTGTGAGACCTTGATGTAGACT

Phenotype

MIM: 116831

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GZMH PubMed Links

Gene Details

Gene

GZMH

Gene Name

granzyme H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270780.1	555	Silent Mutation	CTG,TTG	L172L	NP_001257709.1
NM_001270781.1	555	Silent Mutation	CTG,TTG	L150L	NP_001257710.1
NM_033423.4	555	Silent Mutation	CTG,TTG	L236L	NP_219491.1
XM_011536683.2	555	Silent Mutation	CTG,TTG	L202L	XP_011534985.1

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