Product Details

SNP ID

rs149354459

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45308434 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTGCAGCCCTACGCAGAAGCGG[C/G]GGAAAACCTCCTTCATGTTGCCCCC

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	927	Missense Mutation	CCC,CGC	P251R	NP_001815.2
XM_017026240.1	927	Missense Mutation	CCC,CGC	P251R	XP_016881729.1

Gene

MARK4

Gene Name

microtubule affinity regulating kinase 4

There are no transcripts associated with this gene.

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