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ACATGTTGGTGAAGGAGCTTTCTTG[A/G]AAGCAACAGGATGAGATCAAAAGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 605446 | ||||||||||||||||||||
Literature Links: |
RPGRIP1 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 |
RPGRIP1 - retinitis pigmentosa GTPase regulator interacting protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020366.3 | 195 | Nonsense Mutation | TGA,TGG | *,W 65 | NP_065099.3 | |
XM_005267879.2 | 195 | Intron | XP_005267936.1 | |||
XM_005267880.2 | 195 | Intron | XP_005267937.1 | |||
XM_005267881.3 | 195 | Intron | XP_005267938.1 | |||
XM_011536978.1 | 195 | Intron | XP_011535280.1 | |||
XM_011536979.1 | 195 | Intron | XP_011535281.1 | |||
XM_011536980.1 | 195 | Intron | XP_011535282.1 | |||
XM_011536981.1 | 195 | Intron | XP_011535283.1 | |||
XM_011536982.1 | 195 | Intron | XP_011535284.1 | |||
XM_017021473.1 | 195 | Intron | XP_016876962.1 |