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ACCATGGGTAATTCCTGTATCTGCC[A/G]AGATGACAGTGGAACAGATGACAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616585 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RSPRY1 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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RSPRY1 - ring finger and SPRY domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001305163.1 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | NP_001292092.1 | |
NM_001305164.1 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | NP_001292093.1 | |
NM_001305182.1 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | NP_001292111.1 | |
NM_133368.2 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | NP_588609.1 | |
XM_005256220.1 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | XP_005256277.1 | |
XM_011523427.1 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | XP_011521729.1 | |
XM_011523428.1 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | XP_011521730.1 | |
XM_011523430.1 | 463 | Missense Mutation | CAA,CGA | Q,R 47 | XP_011521732.1 | |
XM_017023844.1 | 463 | UTR 5 | XP_016879333.1 |