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CCCAGGCAGCAGGGAGAAGAGTGGG[C/T]TGGAACCAGGTCCTGGAAAGTTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613176 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SMG9 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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SMG9 - SMG9, nonsense mediated mRNA decay factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_005259057.2 | 1456 | Missense Mutation | AAC,AGC | N,S 451 | XP_005259114.1 | |
XM_011527113.1 | 1456 | Missense Mutation | AAC,AGC | N,S 451 | XP_011525415.1 | |
XM_011527114.1 | 1456 | Missense Mutation | AAC,AGC | N,S 451 | XP_011525416.1 | |
XM_011527115.1 | 1456 | Missense Mutation | AAC,AGC | N,S 451 | XP_011525417.1 | |
XM_011527116.1 | 1456 | Missense Mutation | AAC,AGC | N,S 451 | XP_011525418.1 | |
XM_017026988.1 | 1456 | Missense Mutation | AAC,AGC | N,S 207 | XP_016882477.1 |