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SNP ID

rs147559331

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:104890379 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCTCTGAAATCACTTACGTGGT[A/G]TGGAAGATTTGAAAGCAATGAAGTC

Phenotype

MIM: 608633

Polymorphism

A/G, Transition 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	1068	Missense Mutation	ACA,ATA	T271I	NP_001177945.2

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