Product Details

SNP ID

rs3891239

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:88294000 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGATCATTATGAAATACTGGAAGG[C/G]ATACCCTACAATTTAGGAATTGGTG

Phenotype

MIM: 602365

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CTSC PubMed Links

Gene Details

Gene

CTSC

Gene Name

cathepsin C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114173.2	1513	Intron			NP_001107645.1
NM_001814.5	1513	UTR 3			NP_001805.3
NM_148170.4	1513	Intron			NP_680475.1

View Full Product Details