Product Details

SNP ID

rs200412632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:125676389 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGATCTTCTTTAACATGCACTGCT[A/G]GGAATTCTGAGTGATGCAGGTTCCC

Phenotype

MIM: 102525 MIM: 603078

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACRV1 PubMed Links

Gene Details

Gene

ACRV1

Gene Name

acrosomal vesicle protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001612.5	704	Nonsense Mutation	CAG,TAG	Q215*	NP_001603.1
NM_020069.4	704	Nonsense Mutation	CAG,TAG	Q196*	NP_064454.1
NM_020107.4	704	Nonsense Mutation	CAG,TAG	Q160*	NP_064492.1
NM_020108.4	704	Nonsense Mutation	CAG,TAG	Q145*	NP_064493.1

Gene

CHEK1

Gene Name

checkpoint kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114121.2	704	Intron			NP_001107593.1
NM_001114122.2	704	Intron			NP_001107594.1
NM_001244846.1	704	Intron			NP_001231775.1
NM_001274.5	704	Intron			NP_001265.2
XM_011542560.2	704	Intron			XP_011540862.1
XM_011542561.2	704	Intron			XP_011540863.1
XM_011542562.2	704	Intron			XP_011540864.1
XM_011542563.2	704	Intron			XP_011540865.1
XM_017017146.1	704	Intron			XP_016872635.1

View Full Product Details