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ACCGATGAAGACCCACACGACCGCG[C/T]GGTCTGGAGGGCAATGCTGGCACGA
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 |
---|---|---|
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 |
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 | 1388 | Missense Mutation | GCG,GTG | A,V 30 | NP_073208.1 | |
NM_180699.3 | 1388 | Missense Mutation | GCG,GTG | A,V 35 | NP_851030.1 | |
XM_006719204.3 | 1388 | Missense Mutation | GCG,GTG | A,V 30 | XP_006719267.1 | |
XM_011537780.2 | 1388 | Missense Mutation | GCG,GTG | A,V 91 | XP_011536082.1 | |
XM_017018724.1 | 1388 | Missense Mutation | GCG,GTG | A,V 35 | XP_016874213.1 |