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TCCACCATGCGCTCCTTCAGCGGCA[A/G]GTGGTTCAGCTCCCCATTGGACAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600673 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATXN7L3 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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ATXN7L3 - ataxin 7 like 3 | ||||||
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There are no transcripts associated with this gene. |
LOC101926967 - uncharacterized LOC101926967 | ||||||
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There are no transcripts associated with this gene. |
MIR6782 - microRNA 6782 | ||||||
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There are no transcripts associated with this gene. |
UBTF - upstream binding transcription factor, RNA polymerase I | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001076683.1 | 1956 | Silent Mutation | CTG,TTG | L,L 554 | NP_001070151.1 | |
NM_001076684.2 | 1956 | Silent Mutation | CTG,TTG | L,L 554 | NP_001070152.1 | |
NM_014233.3 | 1956 | Silent Mutation | CTG,TTG | L,L 591 | NP_055048.1 | |
XM_006722059.3 | 1956 | Silent Mutation | CTG,TTG | L,L 591 | XP_006722122.1 | |
XM_006722060.2 | 1956 | Intron | XP_006722123.1 | |||
XM_006722061.2 | 1956 | Intron | XP_006722124.1 | |||
XM_017024995.1 | 1956 | Silent Mutation | CTG,TTG | L,L 591 | XP_016880484.1 | |
XM_017024996.1 | 1956 | Silent Mutation | CTG,TTG | L,L 591 | XP_016880485.1 | |
XM_017024997.1 | 1956 | Silent Mutation | CTG,TTG | L,L 591 | XP_016880486.1 | |
XM_017024998.1 | 1956 | Silent Mutation | CTG,TTG | L,L 591 | XP_016880487.1 | |
XM_017024999.1 | 1956 | Silent Mutation | CTG,TTG | L,L 591 | XP_016880488.1 | |
XM_017025000.1 | 1956 | Silent Mutation | CTG,TTG | L,L 554 | XP_016880489.1 | |
XM_017025001.1 | 1956 | Silent Mutation | CTG,TTG | L,L 554 | XP_016880490.1 | |
XM_017025002.1 | 1956 | Silent Mutation | CTG,TTG | L,L 554 | XP_016880491.1 | |
XM_017025003.1 | 1956 | Silent Mutation | CTG,TTG | L,L 554 | XP_016880492.1 | |
XM_017025004.1 | 1956 | Silent Mutation | CTG,TTG | L,L 554 | XP_016880493.1 |