Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAACCTCAATGTACACATGTCCAT[C/G]GTGCACCCGCTGACACAGACCCAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607139 MIM: 608460 | ||||||||||||||||||||
Literature Links: |
FANCA PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
FANCA - Fanconi anemia complementation group A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000135.2 | 4889 | UTR 3 | NP_000126.2 | |||
NM_001018112.1 | 4889 | Intron | NP_001018122.1 | |||
NM_001286167.1 | 4889 | UTR 3 | NP_001273096.1 | |||
XM_005256294.4 | 4889 | Intron | XP_005256351.1 | |||
XM_011522945.2 | 4889 | Intron | XP_011521247.1 | |||
XM_011522946.2 | 4889 | Intron | XP_011521248.1 | |||
XM_011522947.2 | 4889 | Intron | XP_011521249.1 | |||
XM_011522948.2 | 4889 | Intron | XP_011521250.1 | |||
XM_017023044.1 | 4889 | Intron | XP_016878533.1 | |||
XM_017023045.1 | 4889 | Intron | XP_016878534.1 | |||
XM_017023046.1 | 4889 | Intron | XP_016878535.1 |
ZNF276 - zinc finger protein 276 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113525.1 | 4889 | Missense Mutation | ATC,ATG | I,M 575 | NP_001106997.1 | |
NM_152287.3 | 4889 | Missense Mutation | ATC,ATG | I,M 500 | NP_689500.2 | |
XM_005256324.3 | 4889 | Missense Mutation | ATC,ATG | I,M 558 | XP_005256381.1 | |
XM_005256328.3 | 4889 | Missense Mutation | ATC,ATG | I,M 361 | XP_005256385.1 | |
XM_017023889.1 | 4889 | Intron | XP_016879378.1 | |||
XM_017023890.1 | 4889 | Missense Mutation | ATC,ATG | I,M 361 | XP_016879379.1 |