Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCCCCCTGCAGACCTTGAAGGTCC[A/G]GGGGGTGGTCAGCTGTCCTGGGGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611562 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SEPT12 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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SEPT12 - septin 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001154458.2 | 1288 | Missense Mutation | CGG,TGG | R,W 296 | NP_001147930.1 | |
NM_144605.4 | 1288 | Missense Mutation | CGG,TGG | R,W 342 | NP_653206.2 | |
XM_006720846.2 | 1288 | Missense Mutation | CGG,TGG | R,W 342 | XP_006720909.1 | |
XM_011522379.2 | 1288 | Missense Mutation | CGG,TGG | R,W 278 | XP_011520681.1 | |
XM_017022938.1 | 1288 | Missense Mutation | CGG,TGG | R,W 348 | XP_016878427.1 |