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TATAAAGGCTGGAAGCTTTATTTCT[C/T]TGAAGGTAGGGTTTAAAAAGTACAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608187 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MCM8 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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MCM8 - minichromosome maintenance 8 homologous recombination repair factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281520.1 | 625 | Missense Mutation | TCT,TTT | S,F 83 | NP_001268449.1 | |
NM_001281521.1 | 625 | Missense Mutation | TCT,TTT | S,F 83 | NP_001268450.1 | |
NM_001281522.1 | 625 | Missense Mutation | TCT,TTT | S,F 83 | NP_001268451.1 | |
NM_032485.5 | 625 | Missense Mutation | TCT,TTT | S,F 83 | NP_115874.3 | |
NM_182802.2 | 625 | Missense Mutation | TCT,TTT | S,F 83 | NP_877954.1 | |
XM_011529387.2 | 625 | Missense Mutation | TCT,TTT | S,F 83 | XP_011527689.1 | |
XM_017028105.1 | 625 | Missense Mutation | TCT,TTT | S,F 83 | XP_016883594.1 | |
XM_017028106.1 | 625 | Missense Mutation | TCT,TTT | S,F 19 | XP_016883595.1 | |
XM_017028107.1 | 625 | Intron | XP_016883596.1 |
TRMT6 - tRNA methyltransferase 6 | ||||||
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There are no transcripts associated with this gene. |