Product Details

SNP ID

rs104894215

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:88294111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCATTCTCACCCCAGCCGGTGCC[G/C]CAGCTGTTTTTAACAATCCAGTAAT

Phenotype

MIM: 602365

Polymorphism

G/C, 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	1402	Intron			NP_001107645.1
NM_001814.5	1402	Missense Mutation	TGC,TGG	C429W	NP_001805.3
NM_148170.4	1402	Intron			NP_680475.1

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