Product Details

SNP ID

rs750728

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.5:81233937 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AGTATTGCTAGAGATTCAGTTTTGC[C/T]GTCACTAATACTAACACATTGATAA

Phenotype

MIM: 123295 MIM: 606614

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CKMT2 PubMed Links

Gene Details

Gene

CKMT2

Gene Name

creatine kinase, mitochondrial 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099735.1		Intron			NP_001093205.1
NM_001099736.1		Intron			NP_001093206.1
NM_001825.2		Intron			NP_001816.2

Gene

CKMT2-AS1

Gene Name

CKMT2 antisense RNA 1

There are no transcripts associated with this gene.

Gene

RASGRF2

Gene Name

Ras protein specific guanine nucleotide releasing factor 2

There are no transcripts associated with this gene.

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