Product Details

SNP ID

rs143736590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:88294084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAGTTCCTCTGCGGATCCGGAA[A/G]TAGCCATTCTCACCCCAGCCGGTGC

Phenotype

MIM: 602365

Polymorphism

A/G, Transition 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	1429	Intron			NP_001107645.1
NM_001814.5	1429	Silent Mutation	TAC,TAT	Y438Y	NP_001805.3
NM_148170.4	1429	Intron			NP_680475.1

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