Product Details

SNP ID
rs145686036
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89738201 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCACCACCTGGGCCACCGAGCCC[C/T]TCTGTGACCACAGAGGGCCAGGCGG
Phenotype
MIM: 607139 MIM: 608460
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FANCA PubMed Links

Gene Details

Gene
FANCA
Gene Name
Fanconi anemia complementation group A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000135.2 4814 UTR 3 NP_000126.2
NM_001018112.1 4814 Intron NP_001018122.1
NM_001286167.1 4814 UTR 3 NP_001273096.1
XM_005256294.4 4814 Intron XP_005256351.1
XM_011522945.2 4814 Intron XP_011521247.1
XM_011522946.2 4814 Intron XP_011521248.1
XM_011522947.2 4814 Intron XP_011521249.1
XM_011522948.2 4814 Intron XP_011521250.1
XM_017023044.1 4814 Intron XP_016878533.1
XM_017023045.1 4814 Intron XP_016878534.1
XM_017023046.1 4814 Intron XP_016878535.1
Gene
ZNF276
Gene Name
zinc finger protein 276
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113525.1 4814 Silent Mutation CCC,CCT P600P NP_001106997.1
NM_152287.3 4814 Silent Mutation CCC,CCT P525P NP_689500.2
XM_005256324.3 4814 Silent Mutation CCC,CCT P583P XP_005256381.1
XM_005256328.3 4814 Silent Mutation CCC,CCT P386P XP_005256385.1
XM_017023889.1 4814 Intron XP_016879378.1
XM_017023890.1 4814 Silent Mutation CCC,CCT P386P XP_016879379.1

View Full Product Details