Product Details

SNP ID
rs140394996
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:57392768 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATCTGGGCGCCAAGCCGCGGAGC[C/G]TCCAGACGGGTGAGAGCTTGTGTTT
Phenotype
MIM: 612428
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LOC100291105 PubMed Links

Gene Details

Gene
LOC100291105
Gene Name
uncharacterized LOC100291105
There are no transcripts associated with this gene.

Gene
RBM38
Gene Name
RNA binding motif protein 38
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291780.1 570 Missense Mutation CTC,GTC L150V NP_001278709.1
NM_017495.5 570 Missense Mutation CTC,GTC L118V NP_059965.2
NM_183425.2 570 Missense Mutation CTC,GTC L118V NP_906270.1
XM_005260446.3 570 Missense Mutation CTC,GTC L150V XP_005260503.1
XM_011528885.2 570 Missense Mutation CTC,GTC L150V XP_011527187.1

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