Product Details

SNP ID
rs192370983
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:16344626 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCCGGGGTTTGATCGTGGAGTA[C/T]AGAAGCTCTGAACGCCACATCTCTT
Phenotype
MIM: 608139 MIM: 605947
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CENPV PubMed Links

Gene Details

Gene
CENPV
Gene Name
centromere protein V
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181716.2 727 Missense Mutation TAT,TGT Y222C NP_859067.2
Gene
PIGL
Gene Name
phosphatidylinositol glycan anchor biosynthesis class L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004278.3 727 Intron NP_004269.1
XM_011524080.2 727 Intron XP_011522382.1
XM_017025349.1 727 Intron XP_016880838.1
XM_017025350.1 727 Intron XP_016880839.1
XM_017025351.1 727 Intron XP_016880840.1
XM_017025352.1 727 Intron XP_016880841.1
XM_017025353.1 727 Intron XP_016880842.1
XM_017025354.1 727 Intron XP_016880843.1
XM_017025355.1 727 Intron XP_016880844.1
XM_017025356.1 727 Intron XP_016880845.1

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