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AGCGAGTACCTTTTTCCTTTCTAAC[C/T]GTTCTTGTAAATTTTGTAACATAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300930 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAP7D3 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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MAP7D3 - MAP7 domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173516.1 | 2196 | Missense Mutation | CAG,CGG | Q,R 690 | NP_001166987.1 | |
NM_001173517.1 | 2196 | Missense Mutation | CAG,CGG | Q,R 673 | NP_001166988.1 | |
NM_024597.3 | 2196 | Missense Mutation | CAG,CGG | Q,R 708 | NP_078873.2 | |
XM_005262472.1 | 2196 | Missense Mutation | CAG,CGG | Q,R 707 | XP_005262529.1 | |
XM_017029843.1 | 2196 | Missense Mutation | CAG,CGG | Q,R 694 | XP_016885332.1 |