Product Details

SNP ID

rs146047573

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:103520283 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTGAGGGTTCCACATGAACTCA[C/T]AGTCCTTAGACTTGAAGAGAGTTTC

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	762	Missense Mutation	TAT,TGT	Y269C	NP_001814.2
XM_017020951.1	762	Missense Mutation	TAT,TGT	Y293C	XP_016876440.1
XM_017020952.1	762	UTR 3			XP_016876441.1

Gene

TRMT61A

Gene Name

tRNA methyltransferase 61A

There are no transcripts associated with this gene.

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