Product Details

SNP ID
rs189670977
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:87728697 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGAGCAGAATCTGGTAGACTGCT[C/T]TGGGCCTCAAGGCAATGAAGGCTGC
Phenotype
MIM: 116880
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CTSL PubMed Links

Gene Details

Gene
CTSL
Gene Name
cathepsin L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257971.1 1399 Missense Mutation TCT,TTT S170F NP_001244900.1
NM_001257972.1 1399 Missense Mutation TCT,TTT S170F NP_001244901.1
NM_001257973.1 1399 Intron NP_001244902.1
NM_001912.4 1399 Missense Mutation TCT,TTT S170F NP_001903.1
NM_145918.2 1399 Missense Mutation TCT,TTT S170F NP_666023.1
XM_005251716.3 1399 Missense Mutation TCT,TTT S170F XP_005251773.1
XM_011518263.1 1399 Missense Mutation TCT,TTT S170F XP_011516565.1
XM_017014293.1 1399 Missense Mutation TCT,TTT S170F XP_016869782.1

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