Product Details

SNP ID

rs200919604

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50579818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTTGCCTCTGCCAGGTAATGAC[A/G]AATAAAATGCAACTACGATCAATGG

Phenotype

MIM: 612395 MIM: 601987

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHKB PubMed Links

Gene Details

Gene

CHKB

Gene Name

choline kinase beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005198.4	1158	Missense Mutation	CGT,TGT	R314C	NP_005189.2

Gene

CHKB-AS1

Gene Name

CHKB antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

CHKB-CPT1B

Gene Name

CHKB-CPT1B readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

CPT1B

Gene Name

carnitine palmitoyltransferase 1B

There are no transcripts associated with this gene.

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