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TTTACTTGCCTCATTAAGATCTCCA[A/G]TGGAAAAATATCCATGGAAGAAGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605974 MIM: 615253 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLU7 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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SLU7 - SLU7 homolog, splicing factor | ||||||
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There are no transcripts associated with this gene. |
ZBED8 - zinc finger BED-type containing 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303251.1 | 1973 | Missense Mutation | ACT,ATT | T,I 464 | NP_001290180.1 | |
NM_022090.4 | 1973 | Missense Mutation | ACT,ATT | T,I 464 | NP_071373.2 |