Product Details

SNP ID
rs121909178
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17872596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCAAGTTCCTCTGGATGTGCCTG[C/G]GCCAGCTTCTGAACTCGGTCCTCAC
Phenotype
MIM: 604178 MIM: 601843
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RPL18A PubMed Links

Gene Details

Gene
RPL18A
Gene Name
ribosomal protein L18a
There are no transcripts associated with this gene.

Gene
SLC5A5
Gene Name
solute carrier family 5 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000453.2 1203 Missense Mutation CGC,GGC R93G NP_000444.1
XM_011528192.2 1203 Missense Mutation CGC,GGC R93G XP_011526494.1
XM_011528193.2 1203 Missense Mutation CGC,GGC R4G XP_011526495.1
XM_011528194.2 1203 Intron XP_011526496.1
XM_017027158.1 1203 Missense Mutation CGC,GGC R4G XP_016882647.1
Gene
SNORA68
Gene Name
small nucleolar RNA, H/ACA box 68
There are no transcripts associated with this gene.

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