Product Details

SNP ID
rs201296134
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:103110849 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCTTAACAATTCATTCTTTTGT[G/T]TTATTAGCTGTTCATTTTGCTGCTT
Phenotype
MIM: 117143
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CENPE PubMed Links

Gene Details

Gene
CENPE
Gene Name
centromere protein E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286734.1 7793 Missense Mutation AAA,ACA K2447T NP_001273663.1
NM_001813.2 7793 Missense Mutation AAA,ACA K2568T NP_001804.2
XM_011531544.2 7793 Missense Mutation AAA,ACA K2543T XP_011529846.1
XM_011531545.2 7793 Missense Mutation AAA,ACA K2515T XP_011529847.1
XM_011531546.2 7793 Missense Mutation AAA,ACA K2500T XP_011529848.1
XM_011531547.2 7793 Missense Mutation AAA,ACA K2472T XP_011529849.1
XM_011531548.2 7793 Missense Mutation AAA,ACA K2471T XP_011529850.1
XM_011531549.2 7793 Missense Mutation AAA,ACA K2420T XP_011529851.1
XM_017007659.1 7793 Missense Mutation AAA,ACA K2418T XP_016863148.1

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