Product Details

SNP ID

rs112275638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:125629412 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGGTTTATCTGCATGGTATTGGA[A/G]TAACTCACAGGGATATTAAACCAGA

Phenotype

MIM: 603078 MIM: 601134

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHEK1 PubMed Links

Gene Details

Gene

CHEK1

Gene Name

checkpoint kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114121.2	460	Missense Mutation	ATA,GTA	I126V	NP_001107593.1
NM_001114122.2	460	Missense Mutation	ATA,GTA	I126V	NP_001107594.1
NM_001244846.1	460	Missense Mutation	ATA,GTA	I126V	NP_001231775.1
NM_001274.5	460	Missense Mutation	ATA,GTA	I126V	NP_001265.2
XM_011542560.2	460	Missense Mutation	ATA,GTA	I142V	XP_011540862.1
XM_011542561.2	460	Missense Mutation	ATA,GTA	I142V	XP_011540863.1
XM_011542562.2	460	Missense Mutation	ATA,GTA	I59V	XP_011540864.1
XM_011542563.2	460	Missense Mutation	ATA,GTA	I32V	XP_011540865.1
XM_017017146.1	460	Missense Mutation	ATA,GTA	I126V	XP_016872635.1

Gene

STT3A

Gene Name

STT3A, catalytic subunit of the oligosaccharyltransferase complex

There are no transcripts associated with this gene.

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