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CAGACGTGGGGCTCAAGTATCTCCC[A/G]ATCATCTGGGACTCCGGGTTGCAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609644 MIM: 186947 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FANCM 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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FANCM - Fanconi anemia complementation group M | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308133.1 | 145 | Missense Mutation | CAA,CGA | Q,R 18 | NP_001295062.1 | |
NM_001308134.1 | 145 | Missense Mutation | CAA,CGA | Q,R 18 | NP_001295063.1 | |
NM_020937.3 | 145 | Missense Mutation | CAA,CGA | Q,R 18 | NP_065988.1 | |
XM_011537034.2 | 145 | Missense Mutation | CAA,CGA | Q,R 18 | XP_011535336.1 | |
XM_011537035.2 | 145 | Missense Mutation | CAA,CGA | Q,R 18 | XP_011535337.1 | |
XM_011537037.2 | 145 | Intron | XP_011535339.1 | |||
XM_017021523.1 | 145 | Missense Mutation | CAA,CGA | Q,R 18 | XP_016877012.1 | |
XM_017021524.1 | 145 | Intron | XP_016877013.1 | |||
XM_017021525.1 | 145 | UTR 5 | XP_016877014.1 | |||
XM_017021526.1 | 145 | Intron | XP_016877015.1 | |||
XM_017021527.1 | 145 | UTR 5 | XP_016877016.1 |
FKBP3 - FK506 binding protein 3 | ||||||
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There are no transcripts associated with this gene. |