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TGTCTACTAGTTAGTAGTCCTCTCA[C/G]CCACTGCAAATTTTAAAAGATAAAG
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 | |||
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Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
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 | 1136 | Missense Mutation | CTG,GTG | L,V 347 | NP_001108108.1 | |
NM_018062.3 | 1136 | Missense Mutation | CTG,GTG | L,V 342 | NP_060532.2 | |
XM_005264395.3 | 1136 | Missense Mutation | CTG,GTG | L,V 342 | XP_005264452.1 | |
XM_005264397.4 | 1136 | Missense Mutation | CTG,GTG | L,V 225 | XP_005264454.1 | |
XM_011532939.2 | 1136 | Missense Mutation | CTG,GTG | L,V 362 | XP_011531241.1 | |
XM_011532940.2 | 1136 | Missense Mutation | CTG,GTG | L,V 357 | XP_011531242.1 | |
XM_011532941.1 | 1136 | Missense Mutation | CTG,GTG | L,V 362 | XP_011531243.1 | |
XM_011532942.2 | 1136 | Missense Mutation | CTG,GTG | L,V 347 | XP_011531244.1 | |
XM_011532944.2 | 1136 | Missense Mutation | CTG,GTG | L,V 245 | XP_011531246.1 | |
XM_011532945.2 | 1136 | Missense Mutation | CTG,GTG | L,V 230 | XP_011531247.1 | |
XM_017004414.1 | 1136 | Missense Mutation | CTG,GTG | L,V 357 | XP_016859903.1 | |
XM_017004415.1 | 1136 | Intron | XP_016859904.1 | |||
XM_017004416.1 | 1136 | Missense Mutation | CTG,GTG | L,V 225 | XP_016859905.1 |