Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CATCAGGACGACCTCACCTTACGTC[C/T]TTTTCATGTCGTTTATTGTCTCGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607331 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RP9 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
RP9 - retinitis pigmentosa 9 (autosomal dominant) | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_203288.1 | 953 | Intron | NP_976033.1 | |||
XM_011515468.2 | 953 | Silent Mutation | AAA,AAG | K,K 119 | XP_011513770.1 |