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GCTTCATGTTGCGGAAATACTGCCC[T/C]CAGCGCTGCCGGCCGGCGTCCTTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600577 MIM: 612860 | ||||||||||||||||||||
Literature Links: |
LHX3 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 |
LHX3 - LIM homeobox 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014564.4 | 1103 | Nonsense Mutation | TGA,TGG | *,W 229 | NP_055379.1 | |
NM_178138.5 | 1103 | Nonsense Mutation | TGA,TGG | *,W 224 | NP_835258.1 | |
XM_005263410.1 | 1103 | Nonsense Mutation | TGA,TGG | *,W 213 | XP_005263467.1 | |
XM_017015168.1 | 1103 | Nonsense Mutation | TGA,TGG | *,W 200 | XP_016870657.1 |
QSOX2 - quiescin sulfhydryl oxidase 2 | ||||||
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There are no transcripts associated with this gene. |