Product Details

SNP ID

rs182175403

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:109690859 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTAAACACCACACACCTTCTGCAA[C/T]AGAGTAACACATGAGGAAGTCAGCT

Phenotype

MIM: 601532

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CASP6 PubMed Links

Gene Details

Gene

CASP6

Gene Name

caspase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001226.3	445	Missense Mutation	ATT,GTT	I212V	NP_001217.2
NM_032992.2	445	Missense Mutation	ATT,GTT	I123V	NP_116787.1

Gene

MCUB

Gene Name

mitochondrial calcium uniporter dominant negative beta subunit

There are no transcripts associated with this gene.

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