Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTGGCCACCTCTTGTTTCAGGGCC[C/T]TAGAAACCACTTCGGAGGTAAAGCA
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 |
---|---|---|
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 |
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 | 521 | Missense Mutation | AAG,AGG | K,R 174 | NP_001007090.3 | |
XM_011511165.2 | 521 | Missense Mutation | AAG,AGG | K,R 114 | XP_011509467.1 | |
XM_011511167.2 | 521 | Missense Mutation | AAG,AGG | K,R 50 | XP_011509469.1 | |
XM_017004079.1 | 521 | Missense Mutation | AAG,AGG | K,R 50 | XP_016859568.1 |