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CTGCCCACCTCCTTGCTTTCACTGT[C/T]AGCAGGAGGGACTCCTTCAGGGTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610684 MIM: 602151 MIM: 605125 MIM: 612910 | ||||||||||||||||||||
Literature Links: |
CTDNEP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CTDNEP1 - CTD nuclear envelope phosphatase 1 | ||||||
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There are no transcripts associated with this gene. |
DVL2 - dishevelled segment polarity protein 2 | ||||||
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There are no transcripts associated with this gene. |
GABARAP - GABA type A receptor-associated protein | ||||||
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There are no transcripts associated with this gene. |
PHF23 - PHD finger protein 23 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284517.1 | 915 | Missense Mutation | AAC,GAC | N,D 230 | NP_001271446.1 | |
NM_001284518.1 | 915 | Missense Mutation | AAC,GAC | N,D 293 | NP_001271447.1 | |
NM_024297.2 | 915 | Missense Mutation | AAC,GAC | N,D 297 | NP_077273.2 |