Product Details

SNP ID

rs112423474

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:105041636 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTTTGTTTCCATATCCTTTGAG[C/T]GTCTTCTAGAAAGCAAAGCTTGATT

Phenotype

MIM: 615680 MIM: 147678

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CARD16 PubMed Links

Gene Details

Gene

CARD16

Gene Name

caspase recruitment domain family member 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017534.1	448	Missense Mutation	ACT,GCT	T120A	NP_001017534.1
NM_052889.2	448	UTR 3			NP_443121.1
XM_011542583.2	448	Missense Mutation	ACT,GCT	T188A	XP_011540885.1

Gene

CASP1

Gene Name

caspase 1

There are no transcripts associated with this gene.

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