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TCAGATGGAAACTTCATACTCCCGC[A/G]TATCCTGAAGACAGAGAGATCAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605893 MIM: 616667 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CDIPT 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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CDIPT - CDP-diacylglycerol--inositol 3-phosphatidyltransferase | ||||||
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There are no transcripts associated with this gene. |
CDIPT-AS1 - CDIPT antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |
SEZ6L2 - seizure related 6 homolog like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114099.2 | 2800 | Missense Mutation | ACG,ATG | T,M 833 | NP_001107571.1 | |
NM_001114100.2 | 2800 | Missense Mutation | ACG,ATG | T,M 802 | NP_001107572.1 | |
NM_001243332.1 | 2800 | Missense Mutation | ACG,ATG | T,M 916 | NP_001230261.1 | |
NM_001243333.1 | 2800 | Missense Mutation | ACG,ATG | T,M 872 | NP_001230262.1 | |
NM_012410.3 | 2800 | Missense Mutation | ACG,ATG | T,M 846 | NP_036542.1 | |
NM_201575.3 | 2800 | Missense Mutation | ACG,ATG | T,M 903 | NP_963869.2 | |
XM_005255252.2 | 2800 | Missense Mutation | ACG,ATG | T,M 852 | XP_005255309.1 | |
XM_017023135.1 | 2800 | Missense Mutation | ACG,ATG | T,M 732 | XP_016878624.1 |