Product Details

SNP ID

rs115239439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:105100635 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAAGCAAAGCTCGGGCCTTATCC[A/G]TAACTGTAGCATTTTCACATTTTAC

Phenotype

MIM: 609490

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CARD17 PubMed Links

Gene Details

Gene

CARD17

Gene Name

caspase recruitment domain family member 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007232.1	169	Missense Mutation	AAG,AGG	K51R	NP_001007233.1
XM_011542838.2	169	Missense Mutation	AAG,AGG	K66R	XP_011541140.1

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