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TGGGTCACTGCTTTTGGAGGAAATG[A/G]TGCTGCTACCACTGGCACCAAATAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611408 | ||||||||||||||||||||
Literature Links: |
LCA5 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 |
LCA5 - LCA5, lebercilin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122769.2 | 2318 | Missense Mutation | ACC,ATC | T,I 616 | NP_001116241.1 | |
NM_181714.3 | 2318 | Missense Mutation | ACC,ATC | T,I 616 | NP_859065.2 | |
XM_005248665.4 | 2318 | Missense Mutation | ACC,ATC | T,I 616 | XP_005248722.1 | |
XM_011535504.1 | 2318 | Missense Mutation | ACC,ATC | T,I 616 | XP_011533806.1 |