Product Details

SNP ID

rs188904054

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:97035626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCATCAGGGCCTTCTCCTTTCCA[A/G]GTGCGACCACTGTGAAGCCAGTGTC

Phenotype

MIM: 603308

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CTSV PubMed Links

Gene Details

Gene

CTSV

Gene Name

cathepsin V

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201575.1	939	Intron			NP_001188504.1
NM_001333.3	939	Missense Mutation	CCT,CTT	P230L	NP_001324.2

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