Product Details

SNP ID

rs149245237

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:143292686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTGTCCCCTTTACAAGAAGCTC[C/T]GCCTGTCGACAGGTGAGAATTGATG

Phenotype

MIM: 600639 MIM: 616524

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CASP2 PubMed Links

Gene Details

Gene

CASP2

Gene Name

caspase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001224.4	458	Missense Mutation	CGC,TGC	R124C	NP_001215.1
NM_032982.3	458	Missense Mutation	CGC,TGC	R155C	NP_116764.2
NM_032983.3	458	Intron			NP_116765.2

Gene

LOC105375545

Gene Name

uncharacterized LOC105375545

There are no transcripts associated with this gene.

Gene

TMEM139

Gene Name

transmembrane protein 139

There are no transcripts associated with this gene.

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