Product Details

SNP ID

rs201488531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:103520579 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGTTGACCCACACCAGGAAGGTCT[C/T]ATTGTCATTGTGCCTGCGGGAGGGC

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	819	Missense Mutation	AAG,GAG	K223E	NP_001814.2
XM_017020951.1	819	Missense Mutation	AAG,GAG	K247E	XP_016876440.1
XM_017020952.1	819	Intron			XP_016876441.1

Gene

TRMT61A

Gene Name

tRNA methyltransferase 61A

There are no transcripts associated with this gene.

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