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AAAATTATTCAAAGACATTTACAAC[A/G]CAGCTTGTGGATATGGGGGCAAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607117 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC100287015 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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LOC100287015 - uncharacterized LOC100287015 | ||||||
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There are no transcripts associated with this gene. |
MCPH1 - microcephalin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001172574.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | NP_001166045.1 | |
NM_001172575.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | NP_001166046.1 | |
NM_001322042.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | NP_001308971.1 | |
NM_001322043.1 | 166 | Silent Mutation | ACA,ACG | T,T 28 | NP_001308972.1 | |
NM_001322045.1 | 166 | UTR 5 | NP_001308974.1 | |||
NM_024596.4 | 166 | Silent Mutation | ACA,ACG | T,T 30 | NP_078872.2 | |
XM_011534755.2 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_011533057.1 | |
XM_011534756.2 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_011533058.1 | |
XM_011534757.2 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_011533059.1 | |
XM_011534758.2 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_011533060.1 | |
XM_011534759.2 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_011533061.1 | |
XM_011534760.2 | 166 | Intron | XP_011533062.1 | |||
XM_017013829.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_016869318.1 | |
XM_017013830.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_016869319.1 | |
XM_017013831.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_016869320.1 | |
XM_017013832.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_016869321.1 | |
XM_017013833.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_016869322.1 | |
XM_017013834.1 | 166 | Silent Mutation | ACA,ACG | T,T 30 | XP_016869323.1 |