Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTTGTACAGCTGTGTCCTTCTCC[C/T]GGAAGGCCTCTGTCAGCACCTGCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 602392 MIM: 610033 | ||||||||||||||||||||
Literature Links: |
HCRTR1 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 |
HCRTR1 - hypocretin receptor 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001525.2 | 1115 | Intron | NP_001516.2 | |||
XM_017001105.1 | 1115 | Intron | XP_016856594.1 | |||
XM_017001106.1 | 1115 | Intron | XP_016856595.1 | |||
XM_017001107.1 | 1115 | Intron | XP_016856596.1 |
PEF1 - penta-EF-hand domain containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012392.3 | 1115 | Missense Mutation | CAG,CGG | Q,R 258 | NP_036524.1 | |
XM_011541745.1 | 1115 | Missense Mutation | CAG,CGG | Q,R 253 | XP_011540047.1 | |
XM_011541746.2 | 1115 | Missense Mutation | CAG,CGG | Q,R 188 | XP_011540048.1 | |
XM_011541747.1 | 1115 | Missense Mutation | CAG,CGG | Q,R 188 | XP_011540049.1 | |
XM_017001680.1 | 1115 | Missense Mutation | CAG,CGG | Q,R 188 | XP_016857169.1 | |
XM_017001681.1 | 1115 | Intron | XP_016857170.1 |