Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTGTCCAGCACCGCGCGGGAGATG[A/T]CCGGCTCCAGCTCCTGCAGGAGGAT
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 |
---|---|---|
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 |
SH2D3C - SH2 domain containing 3C | ||||||
---|---|---|---|---|---|---|
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 | 803 | Missense Mutation | GAC,GTC | D,V 230 | NP_001078816.1 | |
NM_001134430.2 | 803 | Intron | NP_001127902.1 | |||
NM_001134431.2 | 803 | UTR 3 | NP_001127903.1 | |||
NM_001252018.1 | 803 | Missense Mutation | GAC,GTC | D,V 68 | NP_001238947.1 | |
NM_001252021.1 | 803 | Missense Mutation | GAC,GTC | D,V 68 | NP_001238950.1 | |
NM_001252023.1 | 803 | Intron | NP_001238952.1 | |||
NM_130459.3 | 803 | UTR 3 | NP_569726.2 | |||
XM_011518554.1 | 803 | Missense Mutation | GAC,GTC | D,V 229 | XP_011516856.1 |
TTC16 - tetratricopeptide repeat domain 16 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317037.1 | 803 | Intron | NP_001303966.1 | |||
NM_144965.2 | 803 | Intron | NP_659402.1 | |||
XM_005251733.1 | 803 | Intron | XP_005251790.1 | |||
XM_005251734.1 | 803 | Intron | XP_005251791.1 | |||
XM_006716970.1 | 803 | Intron | XP_006717033.1 | |||
XM_006716971.1 | 803 | Intron | XP_006717034.1 | |||
XM_011518283.1 | 803 | Intron | XP_011516585.1 | |||
XM_011518284.1 | 803 | Intron | XP_011516586.1 | |||
XM_011518285.1 | 803 | Intron | XP_011516587.1 | |||
XM_011518288.1 | 803 | Intron | XP_011516590.1 | |||
XM_011518289.2 | 803 | Intron | XP_011516591.1 | |||
XM_011518290.1 | 803 | Intron | XP_011516592.1 | |||
XM_011518291.1 | 803 | Intron | XP_011516593.1 | |||
XM_011518292.1 | 803 | Intron | XP_011516594.1 | |||
XM_011518293.1 | 803 | Intron | XP_011516595.1 | |||
XM_011518294.2 | 803 | Intron | XP_011516596.1 | |||
XM_011518295.1 | 803 | Intron | XP_011516597.1 | |||
XM_011518297.1 | 803 | Intron | XP_011516599.1 | |||
XM_011518298.2 | 803 | Intron | XP_011516600.1 |