Product Details

SNP ID
rs17227424
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89738216 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCGAGCCCCTCTGTGACCACAGA[C/G]GGCCAGGCGGTGAAGCCCGAACCCA
Phenotype
MIM: 607139 MIM: 608460
Polymorphism
C/G, Transversion 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 4799 UTR 3 NP_000126.2
NM_001018112.1 4799 Intron NP_001018122.1
NM_001286167.1 4799 UTR 3 NP_001273096.1
XM_005256294.4 4799 Intron XP_005256351.1
XM_011522945.2 4799 Intron XP_011521247.1
XM_011522946.2 4799 Intron XP_011521248.1
XM_011522947.2 4799 Intron XP_011521249.1
XM_011522948.2 4799 Intron XP_011521250.1
XM_017023044.1 4799 Intron XP_016878533.1
XM_017023045.1 4799 Intron XP_016878534.1
XM_017023046.1 4799 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 4799 Silent Mutation GAC,GAG D605E NP_001106997.1
NM_152287.3 4799 Silent Mutation GAC,GAG D530E NP_689500.2
XM_005256324.3 4799 Silent Mutation GAC,GAG D588E XP_005256381.1
XM_005256328.3 4799 Silent Mutation GAC,GAG D391E XP_005256385.1
XM_017023889.1 4799 Intron XP_016879378.1
XM_017023890.1 4799 Silent Mutation GAC,GAG D391E XP_016879379.1

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