Product Details

SNP ID
rs148085251
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24607373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCTGCTAGGTAGCCTGAGAGGCC[A/G]CACAGCTGTGGTCCACTTGGCCTTT
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_001270780.1 480 Missense Mutation CGG,TGG R125W NP_001257709.1
NM_001270781.1 480 Intron NP_001257710.1
NM_033423.4 480 Missense Mutation CGG,TGG R125W NP_219491.1
XM_011536683.2 480 Missense Mutation CGG,TGG R91W XP_011534985.1

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