Product Details

SNP ID

rs201695087

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50570398 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGGTGGAGAGACGCCAGGGTTC[C/T]GAGAGCACCTGCAATGGAGGCCACA

Phenotype

MIM: 612395 MIM: 601987 MIM: 615775

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHKB PubMed Links

Gene Details

Gene

CHKB

Gene Name

choline kinase beta

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145134.1	2175	Silent Mutation	TCA,TCG	S645S	NP_001138606.1
NM_001145135.1	2175	Silent Mutation	TCA,TCG	S679S	NP_001138607.1
NM_001145137.1	2175	Silent Mutation	TCA,TCG	S679S	NP_001138609.1
NM_004377.3	2175	Silent Mutation	TCA,TCG	S679S	NP_004368.1
NM_152245.2	2175	Silent Mutation	TCA,TCG	S679S	NP_689451.1
NM_152246.2	2175	Silent Mutation	TCA,TCG	S679S	NP_689452.1

Gene

SYCE3

Gene Name

synaptonemal complex central element protein 3

There are no transcripts associated with this gene.

View Full Product Details