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GGCATCGGGGCATCATTATTGGCCC[C/T]GCTGTTCAGAAGCAGAGACAGAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604722 MIM: 608052 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SH2D3C 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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SH2D3C - SH2 domain containing 3C | ||||||
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There are no transcripts associated with this gene. |
TOR2A - torsin family 2 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001085347.2 | 1077 | Intron | NP_001078816.1 | |||
NM_001134430.2 | 1077 | Intron | NP_001127902.1 | |||
NM_001134431.2 | 1077 | UTR 3 | NP_001127903.1 | |||
NM_001252018.1 | 1077 | Intron | NP_001238947.1 | |||
NM_001252021.1 | 1077 | Intron | NP_001238950.1 | |||
NM_001252023.1 | 1077 | Intron | NP_001238952.1 | |||
NM_130459.3 | 1077 | UTR 3 | NP_569726.2 | |||
XM_011518554.1 | 1077 | Intron | XP_011516856.1 |
TTC16 - tetratricopeptide repeat domain 16 | ||||||
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There are no transcripts associated with this gene. |