Product Details

SNP ID
rs112682750
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:87727608 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCTTCCTAGGTTTTAAAACATGA[A/C]TCCTACACTCATCCTTGCTGCCTTT
Phenotype
MIM: 116880
Polymorphism
A/C, Transversion 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_001257971.1 895 Missense Mutation AAT,ACT N2T NP_001244900.1
NM_001257972.1 895 Missense Mutation AAT,ACT N2T NP_001244901.1
NM_001257973.1 895 UTR 5 NP_001244902.1
NM_001912.4 895 Missense Mutation AAT,ACT N2T NP_001903.1
NM_145918.2 895 Missense Mutation AAT,ACT N2T NP_666023.1
XM_005251716.3 895 Missense Mutation AAT,ACT N2T XP_005251773.1
XM_011518263.1 895 Missense Mutation AAT,ACT N2T XP_011516565.1
XM_017014293.1 895 Missense Mutation AAT,ACT N2T XP_016869782.1

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