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GGCAACTGAGATTTGGGGGACGGGA[C/G]CGGCCTTTTCGAAAACCTATTAACT
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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There are no transcripts associated with this gene. |
SNRNP35 - small nuclear ribonucleoprotein U11/U12 subunit 35 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022717.3 | 1776 | Missense Mutation | GAC,GAG | D,E 159 | NP_073208.1 | |
NM_180699.3 | 1776 | Missense Mutation | GAC,GAG | D,E 164 | NP_851030.1 | |
XM_006719204.3 | 1776 | Missense Mutation | GAC,GAG | D,E 159 | XP_006719267.1 | |
XM_011537780.2 | 1776 | Missense Mutation | GAC,GAG | D,E 220 | XP_011536082.1 | |
XM_017018724.1 | 1776 | Missense Mutation | GAC,GAG | D,E 164 | XP_016874213.1 |