Product Details

SNP ID
rs145240557
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:65563489 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACCTTTACCTGTGGAGGCAACAC[G/T]GGCCAAGAAGAGGAAAGGTAGCTGC
Phenotype
MIM: 611502
Polymorphism
G/T, Transversion 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_001267038.1 251 Intron NP_001253967.1
NM_022145.4 251 Intron NP_071428.2
XM_011543534.2 251 Intron XP_011541836.1
XM_011543535.2 251 Intron XP_011541837.1
XM_011543536.2 251 Intron XP_011541838.1
XM_011543537.2 251 Intron XP_011541839.1
XM_011543538.2 251 Intron XP_011541840.1
XM_011543539.2 251 Intron XP_011541841.1
XM_011543540.2 251 Intron XP_011541842.1
XM_011543541.2 251 Intron XP_011541843.1
XM_011543542.2 251 Intron XP_011541844.1
XM_017009690.1 251 Intron XP_016865179.1
XM_017009691.1 251 Intron XP_016865180.1
XM_017009692.1 251 Intron XP_016865181.1
XM_017009693.1 251 Intron XP_016865182.1
XM_017009694.1 251 Intron XP_016865183.1
XM_017009695.1 251 Intron XP_016865184.1
XM_017009696.1 251 Intron XP_016865185.1
XM_017009697.1 251 Intron XP_016865186.1
XM_017009698.1 251 Intron XP_016865187.1
XM_017009699.1 251 Intron XP_016865188.1
XM_017009700.1 251 Intron XP_016865189.1
XM_017009701.1 251 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_001278926.1 251 Missense Mutation GGG,TGG G18W NP_001265855.1
NM_001278927.1 251 UTR 5 NP_001265856.1
NM_001278929.1 251 UTR 5 NP_001265858.1
NM_015342.3 251 Missense Mutation CGG,CTG R60L NP_056157.1
XM_005248474.3 251 Missense Mutation GGG,TGG G18W XP_005248531.1
XM_006714583.3 251 UTR 5 XP_006714646.1
XM_011543295.1 251 Intron XP_011541597.1
XM_017009286.1 251 UTR 5 XP_016864775.1

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