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TGGAGCAGCAGCAGCAGCAACAGCA[A/G]CTGGAGCAGCAGCTACCATGGTGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300410 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AMOT 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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AMOT - angiomotin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113490.1 | 2511 | Missense Mutation | GCT,GTT | A,V 913 | NP_001106962.1 | |
NM_133265.2 | 2511 | Missense Mutation | GCT,GTT | A,V 504 | NP_573572.1 | |
XM_005262087.1 | 2511 | Missense Mutation | GCT,GTT | A,V 913 | XP_005262144.1 | |
XM_005262090.1 | 2511 | Missense Mutation | GCT,GTT | A,V 504 | XP_005262147.1 | |
XM_011530875.2 | 2511 | Missense Mutation | GCT,GTT | A,V 913 | XP_011529177.1 | |
XM_017029289.1 | 2511 | Missense Mutation | GCT,GTT | A,V 504 | XP_016884778.1 |
MIR4329 - microRNA 4329 | ||||||
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There are no transcripts associated with this gene. |