Product Details

SNP ID

rs5030582

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:109692671 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTTATGCTCCTTTTTCAGGCTGTA[A/T]TCAACACGAGTAAACTCATCTAATC

Phenotype

MIM: 601532

Polymorphism

A/T, Transversion 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		Intron			NP_001217.2
NM_032992.2		Intron			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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