Product Details

SNP ID
rs2079672
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89818509 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAGAAAACCATGAAGATGGCCGGAG[A/G]AAAAAGATACGTTAAATACAGTAAC
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
There are no transcripts associated with this gene.

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 1033 Intron NP_115827.1
XM_011523379.1 1033 Missense Mutation GAA,GGA E19G XP_011521681.1
XM_011523380.2 1033 Intron XP_011521682.1
XM_011523381.1 1033 UTR 5 XP_011521683.1
XM_011523384.1 1033 Intron XP_011521686.1
XM_011523385.1 1033 Intron XP_011521687.1
XM_017023779.1 1033 Intron XP_016879268.1
XM_017023780.1 1033 Intron XP_016879269.1
XM_017023781.1 1033 Intron XP_016879270.1

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