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TGTATTAATACTAGATTCTGTCCAG[A/G]CCCGAGAACTTTCATCTTTCAGAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601898 | ||||||||||||||||||||
Literature Links: |
GHSR 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 |
GHSR - growth hormone secretagogue receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004122.2 | 1116 | Intron | NP_004113.1 | |||
NM_198407.2 | 1116 | Missense Mutation | GCC,GTC | A,V 358 | NP_940799.1 |