Product Details

SNP ID

rs200360815

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:103520256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGGATGGGCAGGTGAGGATGTAG[C/T]CCAGGTGAGGGTTCCACATGAACTC

Phenotype

MIM: 123280

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CKB PubMed Links

Gene Details

Gene

CKB

Gene Name

creatine kinase B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001823.4	789	Missense Mutation	GAC,GGC	D278G	NP_001814.2
XM_017020951.1	789	Missense Mutation	GAC,GGC	D302G	XP_016876440.1
XM_017020952.1	789	UTR 3			XP_016876441.1

Gene

TRMT61A

Gene Name

tRNA methyltransferase 61A

There are no transcripts associated with this gene.

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