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- SNP ID:
- rs146062904
- Gene
-
RPL13SNORD68SPG7 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.16: 89563021 - 89563021 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
AAAGAGCCAAGGAAGCCGCAGAACA[C/G]GATGTTGAAAAGAAAAAATAAAGCC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 113703
MIM: 602783
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Literature Links: |
RPL13 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| RPL13 - ribosomal protein L13 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000977.3 | 691 | Missense Mutation | CAC,CAG | H,Q 205 | NP_000968.2 | |
| NM_001243130.1 | 691 | Missense Mutation | CAC,CAG | H,Q 186 | NP_001230059.1 | |
| NM_001243131.1 | 691 | Missense Mutation | CAC,CAG | H,Q 158 | NP_001230060.1 | |
| NM_033251.2 | 691 | Missense Mutation | CAC,CAG | H,Q 205 | NP_150254.1 | |
| SNORD68 - small nucleolar RNA, C/D box 68 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| SPG7 - SPG7, paraplegin matrix AAA peptidase subunit | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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