Product Details

SNP ID
rs200394678
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:92500727 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATACTTGAAAAAGCCAAAATTTAC[C/T]GTATCTTGTTGTTGTTCAGCCTCAG
Phenotype
MIM: 611505 MIM: 603479
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CENPP PubMed Links

Gene Details

Gene
CENPP
Gene Name
centromere protein P
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012267.2 2052 Intron NP_001012267.1
NM_001286969.1 2052 Intron NP_001273898.1
NM_001286971.1 2052 Intron NP_001273900.1
XM_011518685.2 2052 Intron XP_011516987.1
XM_011518689.1 2052 Intron XP_011516991.1
XM_017014715.1 2052 Intron XP_016870204.1
Gene
ECM2
Gene Name
extracellular matrix protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001197295.1 2052 Missense Mutation CAG,CGG Q622R NP_001184224.1
NM_001197296.1 2052 Missense Mutation CAC,CGC H622R NP_001184225.1
NM_001393.3 2052 Missense Mutation CAG,CGG Q644R NP_001384.1
XM_017014376.1 2052 Intron XP_016869865.1
XM_017014377.1 2052 Intron XP_016869866.1

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