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AGATTTTACCAGTCCAGATATATTC[A/C]AGAAGTCAAGATCTCCATCTTGGTA
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
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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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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 | 1819 | UTR 3 | NP_001108108.1 | |||
NM_018062.3 | 1819 | UTR 3 | NP_060532.2 | |||
XM_005264395.3 | 1819 | UTR 3 | XP_005264452.1 | |||
XM_005264397.4 | 1819 | UTR 3 | XP_005264454.1 | |||
XM_011532939.2 | 1819 | UTR 3 | XP_011531241.1 | |||
XM_011532940.2 | 1819 | UTR 3 | XP_011531242.1 | |||
XM_011532941.1 | 1819 | UTR 3 | XP_011531243.1 | |||
XM_011532942.2 | 1819 | UTR 3 | XP_011531244.1 | |||
XM_011532944.2 | 1819 | UTR 3 | XP_011531246.1 | |||
XM_011532945.2 | 1819 | UTR 3 | XP_011531247.1 | |||
XM_017004414.1 | 1819 | UTR 3 | XP_016859903.1 | |||
XM_017004415.1 | 1819 | Intron | XP_016859904.1 | |||
XM_017004416.1 | 1819 | UTR 3 | XP_016859905.1 |
VRK2 - vaccinia related kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130480.2 | 1819 | Missense Mutation | AAG,CAG | K,Q 443 | NP_001123952.1 | |
NM_001130481.2 | 1819 | Missense Mutation | AAG,CAG | K,Q 443 | NP_001123953.1 | |
NM_001130482.2 | 1819 | Missense Mutation | AAG,CAG | K,Q 420 | NP_001123954.1 | |
NM_001130483.2 | 1819 | UTR 3 | NP_001123955.1 | |||
NM_001288836.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | NP_001275765.1 | |
NM_001288837.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 443 | NP_001275766.1 | |
NM_001288838.1 | 1819 | UTR 3 | NP_001275767.1 | |||
NM_001288839.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | NP_001275768.1 | |
NM_006296.6 | 1819 | Missense Mutation | AAG,CAG | K,Q 443 | NP_006287.2 | |
XM_005264540.4 | 1819 | Missense Mutation | AAG,CAG | K,Q 443 | XP_005264597.1 | |
XM_006712090.3 | 1819 | UTR 3 | XP_006712153.1 | |||
XM_006712091.3 | 1819 | UTR 3 | XP_006712154.1 | |||
XM_006712092.3 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | XP_006712155.1 | |
XM_006712093.3 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | XP_006712156.1 | |
XM_011533092.2 | 1819 | Missense Mutation | AAG,CAG | K,Q 443 | XP_011531394.1 | |
XM_017004858.1 | 1819 | UTR 3 | XP_016860347.1 | |||
XM_017004859.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | XP_016860348.1 | |
XM_017004860.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | XP_016860349.1 | |
XM_017004861.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | XP_016860350.1 | |
XM_017004862.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | XP_016860351.1 | |
XM_017004863.1 | 1819 | Missense Mutation | AAG,CAG | K,Q 325 | XP_016860352.1 | |
XM_017004864.1 | 1819 | UTR 3 | XP_016860353.1 | |||
XM_017004865.1 | 1819 | UTR 3 | XP_016860354.1 | |||
XM_017004866.1 | 1819 | UTR 3 | XP_016860355.1 |