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TCTGTTGTTGACTCTCGAAGAGCAC[A/G]TAGCCCACTTCCTAGGGACTGGAGG
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 |
---|---|---|
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 |
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 | 402 | Missense Mutation | ATA,GTA | I,V 27 | NP_001292092.1 | |
NM_001305164.1 | 402 | Missense Mutation | ATA,GTA | I,V 27 | NP_001292093.1 | |
NM_001305182.1 | 402 | Missense Mutation | ATA,GTA | I,V 27 | NP_001292111.1 | |
NM_133368.2 | 402 | Missense Mutation | ATA,GTA | I,V 27 | NP_588609.1 | |
XM_005256220.1 | 402 | Missense Mutation | ATA,GTA | I,V 27 | XP_005256277.1 | |
XM_011523427.1 | 402 | Missense Mutation | ATA,GTA | I,V 27 | XP_011521729.1 | |
XM_011523428.1 | 402 | Missense Mutation | ATA,GTA | I,V 27 | XP_011521730.1 | |
XM_011523430.1 | 402 | Missense Mutation | ATA,GTA | I,V 27 | XP_011521732.1 | |
XM_017023844.1 | 402 | UTR 5 | XP_016879333.1 |