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CATTGAAGTCGTTCTTGTAGCTCTG[A/G]CGCTGCTCCGAAGAGGAGATGGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600284 MIM: 611670 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ELL 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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ELL - elongation factor for RNA polymerase II | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006532.3 | 814 | Silent Mutation | CGC,CGT | R,R 522 | NP_006523.1 | |
XM_011528330.2 | 814 | Intron | XP_011526632.2 | |||
XM_017027335.1 | 814 | Silent Mutation | CGC,CGT | R,R 389 | XP_016882824.1 | |
XM_017027336.1 | 814 | Silent Mutation | CGC,CGT | R,R 271 | XP_016882825.1 | |
XM_017027337.1 | 814 | Silent Mutation | CGC,CGT | R,R 238 | XP_016882826.1 |
ISYNA1 - inositol-3-phosphate synthase 1 | ||||||
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There are no transcripts associated with this gene. |