Product Details

SNP ID
rs202044996
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:78922195 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACACATGTTCTTTCCGCGCTCGA[G/T]GAGGAAGTACCTGGGCAGAAAGAGG
Phenotype
MIM: 116820
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CTSH PubMed Links

Gene Details

Gene
CTSH
Gene Name
cathepsin H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319137.1 1060 Missense Mutation NP_001306066.1
NM_004390.4 1060 Missense Mutation NP_004381.2
XM_005254181.2 1060 Missense Mutation XP_005254238.1
XM_011521276.1 1060 Intron XP_011519578.1
XM_017021951.1 1060 Missense Mutation XP_016877440.1
XM_017021952.1 1060 Missense Mutation XP_016877441.1

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