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GTTGTCCACACTGAGAATTATCACA[C/T]ACTTGATCAGGAATGGTACCGTCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 608111 MIM: 602169 | ||||||||||||||||||||
Literature Links: |
FANCL 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 |
FANCL - Fanconi anemia complementation group L | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114636.1 | 1081 | Silent Mutation | GTA,GTG | V,V 328 | NP_001108108.1 | |
NM_018062.3 | 1081 | Silent Mutation | GTA,GTG | V,V 323 | NP_060532.2 | |
XM_005264395.3 | 1081 | Silent Mutation | GTA,GTG | V,V 323 | XP_005264452.1 | |
XM_005264397.4 | 1081 | Silent Mutation | GTA,GTG | V,V 206 | XP_005264454.1 | |
XM_011532939.2 | 1081 | Silent Mutation | GTA,GTG | V,V 343 | XP_011531241.1 | |
XM_011532940.2 | 1081 | Silent Mutation | GTA,GTG | V,V 338 | XP_011531242.1 | |
XM_011532941.1 | 1081 | Silent Mutation | GTA,GTG | V,V 343 | XP_011531243.1 | |
XM_011532942.2 | 1081 | Silent Mutation | GTA,GTG | V,V 328 | XP_011531244.1 | |
XM_011532944.2 | 1081 | Silent Mutation | GTA,GTG | V,V 226 | XP_011531246.1 | |
XM_011532945.2 | 1081 | Silent Mutation | GTA,GTG | V,V 211 | XP_011531247.1 | |
XM_017004414.1 | 1081 | Silent Mutation | GTA,GTG | V,V 338 | XP_016859903.1 | |
XM_017004415.1 | 1081 | Intron | XP_016859904.1 | |||
XM_017004416.1 | 1081 | Silent Mutation | GTA,GTG | V,V 206 | XP_016859905.1 |