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TGCTGGGCACCGTAGGAACTTGGAG[A/G]TGGCTGACCATAGGGGCCCCCGGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
2 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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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HCRTR1 - hypocretin receptor 1 | ||||||
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There are no transcripts associated with this gene. |
PEF1 - penta-EF-hand domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012392.3 | 622 | Missense Mutation | CCT,TCT | P,S 94 | NP_036524.1 | |
XM_011541745.1 | 622 | Missense Mutation | CCT,TCT | P,S 89 | XP_011540047.1 | |
XM_011541746.2 | 622 | Missense Mutation | CCT,TCT | P,S 24 | XP_011540048.1 | |
XM_011541747.1 | 622 | Missense Mutation | CCT,TCT | P,S 24 | XP_011540049.1 | |
XM_017001680.1 | 622 | Missense Mutation | CCT,TCT | P,S 24 | XP_016857169.1 | |
XM_017001681.1 | 622 | Intron | XP_016857170.1 |