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AGCCATCCTTTCTTCTTTTTAGTCT[C/G]ATTTTGTTGCTGCCCATCTTTGAGT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 2051 | Missense Mutation | CAG,GAG | Q,E 642 | NP_001166987.1 | |
NM_001173517.1 | 2051 | Missense Mutation | CAG,GAG | Q,E 625 | NP_001166988.1 | |
NM_024597.3 | 2051 | Missense Mutation | CAG,GAG | Q,E 660 | NP_078873.2 | |
XM_005262472.1 | 2051 | Missense Mutation | CAG,GAG | Q,E 659 | XP_005262529.1 | |
XM_017029843.1 | 2051 | Missense Mutation | CAG,GAG | Q,E 646 | XP_016885332.1 |