Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AATAATTATTTTTCTTTTTCCTTCT[A/G]TAGGTGACGATGGCTTAATAGAATT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602915 | ||||||||||||||||||||
Literature Links: |
LCA5L 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 |
LCA5L - LCA5L, lebercilin like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152505.3 | 1970 | Missense Mutation | ACA,ATA | T,I 662 | NP_689718.1 | |
XM_005260926.1 | 1970 | Missense Mutation | ACA,ATA | T,I 662 | XP_005260983.1 | |
XM_006723967.1 | 1970 | Missense Mutation | ACA,ATA | T,I 662 | XP_006724030.1 | |
XM_006723972.1 | 1970 | Missense Mutation | ACA,ATA | T,I 532 | XP_006724035.1 | |
XM_006723973.1 | 1970 | Missense Mutation | ACA,ATA | T,I 532 | XP_006724036.1 | |
XM_011529458.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527760.1 | |
XM_011529459.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527761.1 | |
XM_011529460.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527762.1 | |
XM_011529461.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527763.1 | |
XM_011529462.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527764.1 | |
XM_011529463.2 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527765.1 | |
XM_011529464.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527766.1 | |
XM_011529465.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527767.1 | |
XM_011529466.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527768.1 | |
XM_011529467.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527769.1 | |
XM_011529468.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527770.1 | |
XM_011529469.2 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527771.1 | |
XM_011529470.1 | 1970 | Missense Mutation | ACA,ATA | T,I 711 | XP_011527772.1 | |
XM_011529471.1 | 1970 | Missense Mutation | ACA,ATA | T,I 665 | XP_011527773.1 | |
XM_017028274.1 | 1970 | Missense Mutation | ACA,ATA | T,I 532 | XP_016883763.1 | |
XM_017028275.1 | 1970 | Missense Mutation | ACA,ATA | T,I 532 | XP_016883764.1 | |
XM_017028276.1 | 1970 | Missense Mutation | ACA,ATA | T,I 532 | XP_016883765.1 | |
XM_017028277.1 | 1970 | Missense Mutation | ACA,ATA | T,I 532 | XP_016883766.1 | |
XM_017028278.1 | 1970 | Missense Mutation | ACA,ATA | T,I 532 | XP_016883767.1 |
WRB - tryptophan rich basic protein | ||||||
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There are no transcripts associated with this gene. |
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 | 1970 | Intron | NP_001304673.1 |