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GGAGATTTCAGCAAGGATGATTCCT[C/T]GGTACTGTTTGCCCTGTCCCAGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604414 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C22orf23 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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C22orf23 - chromosome 22 open reading frame 23 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001207062.1 | 607 | Missense Mutation | CAA,CGA | Q,R 164 | NP_001193991.1 | |
NM_032561.4 | 607 | Missense Mutation | CAA,CGA | Q,R 185 | NP_115950.3 | |
XM_005261781.1 | 607 | Missense Mutation | CAA,CGA | Q,R 185 | XP_005261838.1 | |
XM_005261782.3 | 607 | Missense Mutation | CAA,CGA | Q,R 185 | XP_005261839.1 | |
XM_005261783.2 | 607 | Missense Mutation | CAA,CGA | Q,R 164 | XP_005261840.1 | |
XM_005261784.2 | 607 | Missense Mutation | CAA,CGA | Q,R 164 | XP_005261841.1 |
MICALL1 - MICAL like 1 | ||||||
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There are no transcripts associated with this gene. |
POLR2F - RNA polymerase II subunit F | ||||||
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There are no transcripts associated with this gene. |