Product Details

SNP ID
rs193921098
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:125676409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTGGGAATTCTGAGTGATGCAG[G/A]TTCCCTCTCCACGAAGACATTTTCC
Phenotype
MIM: 102525 MIM: 603078
Polymorphism
G/A, 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_001612.5 684 Missense Mutation ACC,ATC T208I NP_001603.1
NM_020069.4 684 Missense Mutation ACC,ATC T189I NP_064454.1
NM_020107.4 684 Missense Mutation ACC,ATC T153I NP_064492.1
NM_020108.4 684 Missense Mutation ACC,ATC T138I NP_064493.1
Gene
CHEK1
Gene Name
checkpoint kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114121.2 684 Intron NP_001107593.1
NM_001114122.2 684 Intron NP_001107594.1
NM_001244846.1 684 Intron NP_001231775.1
NM_001274.5 684 Intron NP_001265.2
XM_011542560.2 684 Intron XP_011540862.1
XM_011542561.2 684 Intron XP_011540863.1
XM_011542562.2 684 Intron XP_011540864.1
XM_011542563.2 684 Intron XP_011540865.1
XM_017017146.1 684 Intron XP_016872635.1

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