Product Details

SNP ID

rs200347007

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:109689395 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGAGGCAAAACAGGGAACCTGCT[G/T]CTTTCCAATTGCACTTGGGTCTTTG

Phenotype

MIM: 601532

Polymorphism

G/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	628	Missense Mutation	AAG,CAG	K273Q	NP_001217.2
NM_032992.2	628	Missense Mutation	AAG,CAG	K184Q	NP_116787.1

Gene

MCUB

Gene Name

mitochondrial calcium uniporter dominant negative beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017918.4	628	Intron			NP_060388.2
XM_006714246.3	628	Intron			XP_006714309.1

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