Product Details

SNP ID
rs1059175
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89561003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATGGTCTTGAAGCCCCACTTCC[A/C]CAAGGACTGGCAGCGGCGCGTGGCC
Phenotype
MIM: 113703 MIM: 602783
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
RPL13 PubMed Links

Gene Details

Gene
RPL13
Gene Name
ribosomal protein L13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000977.3 120 Missense Mutation CAC,CCC H15P NP_000968.2
NM_001243130.1 120 Missense Mutation CAC,CCC H15P NP_001230059.1
NM_001243131.1 120 Missense Mutation CAC,CCC H15P NP_001230060.1
NM_033251.2 120 Missense Mutation CAC,CCC H15P NP_150254.1
Gene
SNORD68
Gene Name
small nucleolar RNA, C/D box 68
There are no transcripts associated with this gene.

Gene
SPG7
Gene Name
SPG7, paraplegin matrix AAA peptidase subunit
There are no transcripts associated with this gene.

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