Product Details

SNP ID

rs147729252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45306786 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGGATCATGTCGTCAATGGACTG[C/G]CCTTTCTCCAACTTCTTCTCCATTT

Phenotype

MIM: 123310 MIM: 606495

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CKM PubMed Links

Gene Details

Gene

CKM

Gene Name

creatine kinase, M-type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001824.4	1285	Silent Mutation	GGC,GGG	G370G	NP_001815.2
XM_017026240.1	1285	Silent Mutation	GGC,GGG	G370G	XP_016881729.1

Gene

MARK4

Gene Name

microtubule affinity regulating kinase 4

There are no transcripts associated with this gene.

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