Product Details

SNP ID
rs147381706
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89817590 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCGAGTGCCTAGGCGAAGCTAAT[A/G]TGCCTCAAAGTCCTGGGTAAGTAGA
Phenotype
MIM: 607139 MIM: 609217
Polymorphism
A/G, 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_000135.2 114 Intron NP_000126.2
NM_001018112.1 114 Intron NP_001018122.1
NM_001286167.1 114 Intron NP_001273096.1
XM_005256294.4 114 Intron XP_005256351.1
XM_011522945.2 114 Intron XP_011521247.1
XM_011522946.2 114 Intron XP_011521248.1
XM_011522947.2 114 Intron XP_011521249.1
XM_011522948.2 114 Intron XP_011521250.1
XM_017023044.1 114 Intron XP_016878533.1
XM_017023045.1 114 Intron XP_016878534.1
XM_017023046.1 114 Intron XP_016878535.1
Gene
SPIRE2
Gene Name
spire type actin nucleation factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032451.1 114 Intron NP_115827.1
XM_011523379.1 114 UTR 5 XP_011521681.1
XM_011523380.2 114 Intron XP_011521682.1
XM_011523381.1 114 UTR 5 XP_011521683.1
XM_011523384.1 114 Intron XP_011521686.1
XM_011523385.1 114 Intron XP_011521687.1
XM_017023779.1 114 Intron XP_016879268.1
XM_017023780.1 114 Intron XP_016879269.1
XM_017023781.1 114 Intron XP_016879270.1

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