Product Details

SNP ID

rs137876986

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:87727643 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCTTGCTGCCTTTTGCCTGGGA[A/G]TTGCCTCAGCTACTCTAACATTTGA

Phenotype

MIM: 116880

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CTSL PubMed Links

Additional Information

For this assay, SNP(s) [rs144211513] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CTSL

Gene Name

cathepsin L

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257971.1	930	Missense Mutation	ATT,GTT	I14V	NP_001244900.1
NM_001257972.1	930	Missense Mutation	ATT,GTT	I14V	NP_001244901.1
NM_001257973.1	930	UTR 5			NP_001244902.1
NM_001912.4	930	Missense Mutation	ATT,GTT	I14V	NP_001903.1
NM_145918.2	930	Missense Mutation	ATT,GTT	I14V	NP_666023.1
XM_005251716.3	930	Missense Mutation	ATT,GTT	I14V	XP_005251773.1
XM_011518263.1	930	Missense Mutation	ATT,GTT	I14V	XP_011516565.1
XM_017014293.1	930	Missense Mutation	ATT,GTT	I14V	XP_016869782.1

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