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GGATCATTGCATCCTGGGTGATGTC[A/C]TCCTTCCAGAACAGACCTGCAGGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612721 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RESP18 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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RESP18 - regulated endocrine specific protein 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001007089.3 | 354 | Missense Mutation | GAG,GAT | E,D 118 | NP_001007090.3 | |
XM_011511165.2 | 354 | Missense Mutation | GAG,GAT | E,D 58 | XP_011509467.1 | |
XM_011511167.2 | 354 | UTR 5 | XP_011509469.1 | |||
XM_017004079.1 | 354 | UTR 5 | XP_016859568.1 |