Product Details

SNP ID

rs144812389

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:58277137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGTTGAATGGATCGCAGCAGTT[A/G]CCATTGCTGCTGGGACAGCTGCAAT

Phenotype

MIM: 611932 MIM: 609851

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CISD1 PubMed Links

Gene Details

Gene

CISD1

Gene Name

CDGSH iron sulfur domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018464.4	224	Missense Mutation	ACC,GCC	T18A	NP_060934.1
XM_017016409.1	224	Missense Mutation	ACC,GCC	T60A	XP_016871898.1

Gene

IPMK

Gene Name

inositol polyphosphate multikinase

There are no transcripts associated with this gene.

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