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CGACTCCGGCTGGGGGGACGTCCTC[A/G]GGTGGGCGATGGGTGGGGGTTGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614092 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RILPL1 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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RILPL1 - Rab interacting lysosomal protein like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319243.1 | 611 | Missense Mutation | CCG,CTG | P,L 343 | NP_001306172.1 | |
NM_001319244.1 | 611 | Missense Mutation | CCG,CTG | P,L 192 | NP_001306173.1 | |
NM_001319302.1 | 611 | Missense Mutation | CCG,CTG | P,L 192 | NP_001306231.1 | |
NM_178314.4 | 611 | Missense Mutation | CCG,CTG | P,L 343 | NP_847884.2 | |
XM_006719372.2 | 611 | Missense Mutation | CCG,CTG | P,L 343 | XP_006719435.1 | |
XM_006719373.3 | 611 | Missense Mutation | CCG,CTG | P,L 192 | XP_006719436.1 | |
XM_011538282.2 | 611 | Missense Mutation | CCG,CTG | P,L 275 | XP_011536584.1 | |
XM_011538284.2 | 611 | Missense Mutation | CCG,CTG | P,L 189 | XP_011536586.1 | |
XM_011538285.2 | 611 | Missense Mutation | CCG,CTG | P,L 189 | XP_011536587.1 |