Product Details

SNP ID
rs201703787
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52075970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCTGTCAGTGTCAACCGCTGCT[A/C]CAGAATGGAGACTGTCTGCAAAATA
Phenotype
MIM: 614783
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
POC1A PubMed Links

Gene Details

Gene
POC1A
Gene Name
POC1 centriolar protein A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001161580.1 938 Nonsense Mutation GAG,TAG E333* NP_001155052.1
NM_001161581.1 938 Nonsense Mutation GAG,TAG E343* NP_001155053.1
NM_015426.4 938 Nonsense Mutation GAG,TAG E381* NP_056241.3
XM_011533560.1 938 Nonsense Mutation GAG,TAG E348* XP_011531862.1
XM_011533561.1 938 Nonsense Mutation GAG,TAG E300* XP_011531863.1
XM_011533562.2 938 Intron XP_011531864.1
XM_011533563.1 938 Intron XP_011531865.1
XM_011533564.2 938 UTR 3 XP_011531866.1
XM_011533565.2 938 Intron XP_011531867.1
XM_017006104.1 938 Nonsense Mutation GAG,TAG E295* XP_016861593.1

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