Product Details

SNP ID
rs3129
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:78921873 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGCCCTTCTGGACAGAAAGAATATT[C/T]GTGGTCCATGTGGTTTGAGTCTGTT
Phenotype
MIM: 116820
Polymorphism
C/T, Transition 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 1382 UTR 3 NP_001306066.1
NM_004390.4 1382 UTR 3 NP_004381.2
XM_005254181.2 1382 UTR 3 XP_005254238.1
XM_011521276.1 1382 Intron XP_011519578.1
XM_017021951.1 1382 UTR 3 XP_016877440.1
XM_017021952.1 1382 UTR 3 XP_016877441.1

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