Product Details

SNP ID

rs146587949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45306879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACTTCGGACGAGCCCAGCCGATC[A/G]GCGTTGGACACGTCAAATACTGAGC

Phenotype

MIM: 123310 MIM: 606495

Polymorphism

A/G, Transition 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	1192	Silent Mutation	GCC,GCT	A339A	NP_001815.2
XM_017026240.1	1192	Silent Mutation	GCC,GCT	A339A	XP_016881729.1

Gene

MARK4

Gene Name

microtubule affinity regulating kinase 4

There are no transcripts associated with this gene.

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