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AAAAGTTTTCCAATACCAGAGTTTT[C/G]TCCTAAGTCTGTAAAGAGAAGTTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609644 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
MIS18BP1 - MIS18 binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018353.4 | 3791 | Missense Mutation | CAA,GAA | Q,E 1102 | NP_060823.3 | |
XM_005267833.4 | 3791 | Missense Mutation | CAA,GAA | Q,E 1102 | XP_005267890.1 | |
XM_011536923.1 | 3791 | Missense Mutation | CAA,GAA | Q,E 714 | XP_011535225.1 | |
XM_017021425.1 | 3791 | Missense Mutation | CAA,GAA | Q,E 1102 | XP_016876914.1 |