Product Details

SNP ID
rs149176446
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:65563492 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTACCTGTGGAGGCAACACTGG[C/T]CAAGAAGAGGAAAGGTAGCTGCAGA
Phenotype
MIM: 611502
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CENPK PubMed Links

Gene Details

Gene
CENPK
Gene Name
centromere protein K
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267038.1 254 Intron NP_001253967.1
NM_022145.4 254 Intron NP_071428.2
XM_011543534.2 254 Intron XP_011541836.1
XM_011543535.2 254 Intron XP_011541837.1
XM_011543536.2 254 Intron XP_011541838.1
XM_011543537.2 254 Intron XP_011541839.1
XM_011543538.2 254 Intron XP_011541840.1
XM_011543539.2 254 Intron XP_011541841.1
XM_011543540.2 254 Intron XP_011541842.1
XM_011543541.2 254 Intron XP_011541843.1
XM_011543542.2 254 Intron XP_011541844.1
XM_017009690.1 254 Intron XP_016865179.1
XM_017009691.1 254 Intron XP_016865180.1
XM_017009692.1 254 Intron XP_016865181.1
XM_017009693.1 254 Intron XP_016865182.1
XM_017009694.1 254 Intron XP_016865183.1
XM_017009695.1 254 Intron XP_016865184.1
XM_017009696.1 254 Intron XP_016865185.1
XM_017009697.1 254 Intron XP_016865186.1
XM_017009698.1 254 Intron XP_016865187.1
XM_017009699.1 254 Intron XP_016865188.1
XM_017009700.1 254 Intron XP_016865189.1
XM_017009701.1 254 Intron XP_016865190.1
Gene
PPWD1
Gene Name
peptidylprolyl isomerase domain and WD repeat containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278926.1 254 Missense Mutation CCA,TCA P19S NP_001265855.1
NM_001278927.1 254 UTR 5 NP_001265856.1
NM_001278929.1 254 UTR 5 NP_001265858.1
NM_015342.3 254 Missense Mutation GCC,GTC A61V NP_056157.1
XM_005248474.3 254 Missense Mutation CCA,TCA P19S XP_005248531.1
XM_006714583.3 254 UTR 5 XP_006714646.1
XM_011543295.1 254 Intron XP_011541597.1
XM_017009286.1 254 UTR 5 XP_016864775.1

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