Product Details

SNP ID
rs200896469
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24607271 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCACTGTCAGCAACACTTCCTGCA[C/G]TGTGGTTGCTAAAGTGCTCATTGAG
Phenotype
MIM: 116831
Polymorphism
C/G, Transversion 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_001270780.1 582 Intron NP_001257709.1
NM_001270781.1 582 Intron NP_001257710.1
NM_033423.4 582 Missense Mutation CTG,GTG L159V NP_219491.1
XM_011536683.2 582 Missense Mutation CTG,GTG L125V XP_011534985.1

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