Product Details

SNP ID

rs200592125

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:15737938 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCTGCTCCCATAGATCAAAACG[C/T]AGCTGCAAGCTCAGACAGTGGCCGC

Phenotype

MIM: 609613 MIM: 610817

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLEKHM2 PubMed Links

Gene Details

Gene

PLEKHM2

Gene Name

pleckstrin homology and RUN domain containing M2

There are no transcripts associated with this gene.

Gene

SLC25A34

Gene Name

solute carrier family 25 member 34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207348.2	1786	Nonsense Mutation	CAG,TAG	Q130*	NP_997231.1
XM_011541292.2	1786	Nonsense Mutation	CAG,TAG	Q130*	XP_011539594.1
XM_011541293.1	1786	Nonsense Mutation	CAG,TAG	Q130*	XP_011539595.1
XM_017001083.1	1786	Nonsense Mutation	CAG,TAG	Q130*	XP_016856572.1

Gene

TMEM82

Gene Name

transmembrane protein 82

There are no transcripts associated with this gene.

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