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Search Thermo Fisher Scientific
GGCTGGGGTCGTACCCTGCTGGGGC[A/G]TGTCCAGGAAGTACTGGGGGTCAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 615463 | ||||||||||||||||||||
Literature Links: |
HYI 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 |
HYI - hydroxypyruvate isomerase (putative) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190880.2 | 1017 | Missense Mutation | ACG,ATG | T,M 165 | NP_001177809.1 | |
NM_001243526.1 | 1017 | Missense Mutation | ACG,ATG | T,M 190 | NP_001230455.1 | |
NM_031207.5 | 1017 | Missense Mutation | ACG,ATG | T,M 165 | NP_112484.3 | |
XM_005271239.4 | 1017 | Missense Mutation | ACG,ATG | T,M 190 | XP_005271296.1 | |
XM_005271240.4 | 1017 | Missense Mutation | ACG,ATG | T,M 156 | XP_005271297.1 | |
XM_006710937.3 | 1017 | Missense Mutation | ACG,ATG | T,M 190 | XP_006711000.1 | |
XM_011542222.2 | 1017 | Missense Mutation | ACG,ATG | T,M 156 | XP_011540524.1 |
MIR6735 - microRNA 6735 | ||||||
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There are no transcripts associated with this gene. |
SZT2 - seizure threshold 2 homolog (mouse) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015284.3 | 1017 | UTR 3 | NP_056099.3 | |||
XM_005270686.3 | 1017 | Intron | XP_005270743.1 | |||
XM_006710501.3 | 1017 | Intron | XP_006710564.1 | |||
XM_011541106.2 | 1017 | Intron | XP_011539408.1 | |||
XM_011541107.2 | 1017 | Intron | XP_011539409.1 | |||
XM_017000819.1 | 1017 | Intron | XP_016856308.1 | |||
XM_017000820.1 | 1017 | Intron | XP_016856309.1 | |||
XM_017000821.1 | 1017 | Intron | XP_016856310.1 |