Product Details

SNP ID

rs185285398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:104886802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCAGTATATTTGGGGTCTCAAAT[C/G]AATGTTGAACCTAAAATGGTAAAGA

Phenotype

MIM: 608633

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CASP12 PubMed Links

Gene Details

Gene

CASP12

Gene Name

caspase 12 (gene/pseudogene)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001191016.2	1194	Nonsense Mutation	TCA,TGA	S313*	NP_001177945.2

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