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TGAGAAATGGAATATAGATGAGGAA[A/G]CTGACCCTGAGGATAAATCAGATTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611408 MIM: 615678 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LCA5 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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LCA5 - LCA5, lebercilin | ||||||
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There are no transcripts associated with this gene. |
SH3BGRL2 - SH3 domain binding glutamate rich protein like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031469.3 | Intron | NP_113657.1 | ||||
XM_011536165.2 | Intron | XP_011534467.1 | ||||
XM_011536282.2 | Intron | XP_011534584.1 | ||||
XM_017011344.1 | Intron | XP_016866833.1 | ||||
XM_017011345.1 | Intron | XP_016866834.1 |