Product Details

SNP ID

rs200849576

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:97033036 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTTACATAGCCATTCGAGCCCCA[C/T]TCTGGACCCCAGCTGAAAGAGGAGC

Phenotype

MIM: 603308

Polymorphism

C/T, 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	1168	Intron			NP_001188504.1
NM_001333.3	1168	Silent Mutation	GAA,GAG	E306E	NP_001324.2

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