Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAATGATCTGGTCTCCTATGGATTT[C/T]ATCTCTGGGAGCGGCTCATTGTTAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 312610 | ||||||||||||||||||||
Literature Links: |
RPGR PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
RPGR - retinitis pigmentosa GTPase regulator | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000328.2 | 2484 | Missense Mutation | ATA,ATG | I,M 772 | NP_000319.1 | |
NM_001034853.1 | 2484 | Intron | NP_001030025.1 | |||
XM_005272633.2 | 2484 | Missense Mutation | ATA,ATG | I,M 661 | XP_005272690.1 | |
XM_011543940.2 | 2484 | Missense Mutation | ATA,ATG | I,M 771 | XP_011542242.1 | |
XM_017029710.1 | 2484 | Missense Mutation | ATA,ATG | I,M 977 | XP_016885199.1 | |
XM_017029711.1 | 2484 | Missense Mutation | ATA,ATG | I,M 976 | XP_016885200.1 | |
XM_017029712.1 | 2484 | Missense Mutation | ATA,ATG | I,M 660 | XP_016885201.1 |