Product Details

SNP ID
rs28420598
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:78923007 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCTGCTTACCCGTTCATTCCCCA[C/G]TGGGGACCCCAAGAGTTTTTCACGA
Phenotype
MIM: 116820
Polymorphism
C/G, 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 1035 Missense Mutation CAC,CAG H172Q NP_001306066.1
NM_004390.4 1035 Missense Mutation CAC,CAG H306Q NP_004381.2
XM_005254181.2 1035 Missense Mutation CAC,CAG H268Q XP_005254238.1
XM_011521276.1 1035 Intron XP_011519578.1
XM_017021951.1 1035 Missense Mutation CAC,CAG H288Q XP_016877440.1
XM_017021952.1 1035 Missense Mutation CAC,CAG H268Q XP_016877441.1

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