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CCTATGGATTTTATCTCTGGGAGCG[G/T]CTCATTGTTATTCTTGACAATCTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 312610 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RPGR 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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RPGR - retinitis pigmentosa GTPase regulator | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000328.2 | 2470 | Missense Mutation | ACG,CCG | T,P 768 | NP_000319.1 | |
NM_001034853.1 | 2470 | Intron | NP_001030025.1 | |||
XM_005272633.2 | 2470 | Missense Mutation | ACG,CCG | T,P 657 | XP_005272690.1 | |
XM_011543940.2 | 2470 | Missense Mutation | ACG,CCG | T,P 767 | XP_011542242.1 | |
XM_017029710.1 | 2470 | Missense Mutation | ACG,CCG | T,P 973 | XP_016885199.1 | |
XM_017029711.1 | 2470 | Missense Mutation | ACG,CCG | T,P 972 | XP_016885200.1 | |
XM_017029712.1 | 2470 | Missense Mutation | ACG,CCG | T,P 656 | XP_016885201.1 |