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TCCAGTGTGAATTCTGTGATGTATA[A/G]TAAGATCTGTGCTTTGACTGAAAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604334 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC100130950 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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LOC100130950 - uncharacterized LOC100130950 | ||||||
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There are no transcripts associated with this gene. |
USP6 - ubiquitin specific peptidase 6 | ||||||
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There are no transcripts associated with this gene. |
ZNF594 - zinc finger protein 594 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032530.1 | 1233 | Missense Mutation | ACT,ATT | T,I 255 | NP_115919.1 | |
XM_005256827.2 | 1233 | Missense Mutation | ACT,ATT | T,I 255 | XP_005256884.1 |