Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAATAGGAAGCCGTCAGAGAACTT[C/G]AAAGCCTTTTGTCTCAGAGAATTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613534 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAN1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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FAN1 - FANCD2/FANCI-associated nuclease 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146094.1 | 2145 | Intron | NP_001139566.1 | |||
NM_001146095.1 | 2145 | Intron | NP_001139567.1 | |||
NM_001146096.1 | 2145 | Intron | NP_001139568.1 | |||
NM_014967.4 | 2145 | Missense Mutation | CAA,GAA | Q,E 691 | NP_055782.3 | |
XM_005254232.4 | 2145 | Missense Mutation | CAA,GAA | Q,E 691 | XP_005254289.1 | |
XM_005254234.4 | 2145 | Missense Mutation | CAA,GAA | Q,E 691 | XP_005254291.1 | |
XM_005254235.3 | 2145 | Missense Mutation | CAA,GAA | Q,E 691 | XP_005254292.1 | |
XM_011521370.2 | 2145 | Missense Mutation | CAA,GAA | Q,E 297 | XP_011519672.1 | |
XM_011521371.1 | 2145 | Missense Mutation | CAA,GAA | Q,E 296 | XP_011519673.1 | |
XM_011521372.2 | 2145 | Intron | XP_011519674.1 | |||
XM_017022012.1 | 2145 | Missense Mutation | CAA,GAA | Q,E 134 | XP_016877501.1 | |
XM_017022013.1 | 2145 | Missense Mutation | CAA,GAA | Q,E 134 | XP_016877502.1 |
MTMR10 - myotubularin related protein 10 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017762.2 | 2145 | Intron | NP_060232.2 | |||
XM_005254508.2 | 2145 | Intron | XP_005254565.1 | |||
XM_011521737.2 | 2145 | Intron | XP_011520039.1 | |||
XM_011521738.2 | 2145 | Intron | XP_011520040.1 | |||
XM_017022384.1 | 2145 | Intron | XP_016877873.1 |