Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCACCAACAATGGGCAGGAACTCCC[A/G]GATGTTTCCTGTCAGGTTCCCATCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 615463 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HYI PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
HYI - hydroxypyruvate isomerase (putative) | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190880.2 | 1127 | Missense Mutation | CGG,TGG | R,W 202 | NP_001177809.1 | |
NM_001243526.1 | 1127 | Missense Mutation | CGG,TGG | R,W 227 | NP_001230455.1 | |
NM_031207.5 | 1127 | Missense Mutation | CGG,TGG | R,W 202 | NP_112484.3 | |
XM_005271239.4 | 1127 | Missense Mutation | CGG,TGG | R,W 227 | XP_005271296.1 | |
XM_005271240.4 | 1127 | Missense Mutation | CGG,TGG | R,W 193 | XP_005271297.1 | |
XM_006710937.3 | 1127 | Missense Mutation | CGG,TGG | R,W 227 | XP_006711000.1 | |
XM_011542222.2 | 1127 | Missense Mutation | CGG,TGG | R,W 193 | XP_011540524.1 |
MIR6735 - microRNA 6735 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SZT2 - seizure threshold 2 homolog (mouse) | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015284.3 | 1127 | UTR 3 | NP_056099.3 | |||
XM_005270686.3 | 1127 | Intron | XP_005270743.1 | |||
XM_006710501.3 | 1127 | Intron | XP_006710564.1 | |||
XM_011541106.2 | 1127 | Intron | XP_011539408.1 | |||
XM_011541107.2 | 1127 | Intron | XP_011539409.1 | |||
XM_017000819.1 | 1127 | Intron | XP_016856308.1 | |||
XM_017000820.1 | 1127 | Intron | XP_016856309.1 | |||
XM_017000821.1 | 1127 | Intron | XP_016856310.1 |