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GGATTTGTCTAGCGGCGCATTCCCT[A/G]ACAGGGGTGTGTTGGGGGGAGTCCT
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602230 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
LCA5L 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)
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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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LCA5L - LCA5L, lebercilin like | ||||||
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There are no transcripts associated with this gene. |
MIR6508 - microRNA 6508 | ||||||
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There are no transcripts associated with this gene. |
SH3BGR - SH3 domain binding glutamate rich protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001713.1 | 202 | Intron | NP_001001713.1 | |||
NM_001317740.1 | 202 | Missense Mutation | AAC,GAC | N,D 50 | NP_001304669.1 | |
NM_001317741.1 | 202 | Intron | NP_001304670.1 | |||
NM_001317742.1 | 202 | Intron | NP_001304671.1 | |||
NM_007341.2 | 202 | Missense Mutation | AAC,GAC | N,D 50 | NP_031367.1 |
WRB-SH3BGR - WRB-SH3BGR readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317744.1 | 202 | Intron | NP_001304673.1 |