Product Details

SNP ID
rs182569220
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219180212 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACCTTCCAGATTCACCTGCAGGA[C/G]CTGCTGCAGTACAAGAGGCAGAATC
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CNPPD1 PubMed Links

Gene Details

Gene
CNPPD1
Gene Name
cyclin Pas1/PHO80 domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321389.1 685 Intron NP_001308318.1
NM_001321390.1 685 Intron NP_001308319.1
NM_001321391.1 685 Intron NP_001308320.1
NM_015680.5 685 Intron NP_056495.3
Gene
FAM134A
Gene Name
family with sequence similarity 134 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321109.1 685 UTR 5 NP_001308038.1
NM_001321110.1 685 UTR 5 NP_001308039.1
NM_024293.5 685 Missense Mutation GAC,GAG D174E NP_077269.3
XM_005246848.2 685 Missense Mutation GAC,GAG D174E XP_005246905.1

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