Product Details

SNP ID
rs147114934
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:160277362 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTGTGGCAAGTAGGCTCCTTGCA[C/T]AGCTGACGTTGCAGGCATGTACTAG
Phenotype
MIM: 602310
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC100505984 PubMed Links

Gene Details

Gene
LOC100505984
Gene Name
uncharacterized LOC100505984
There are no transcripts associated with this gene.

Gene
RBMS1
Gene Name
RNA binding motif single stranded interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002897.4 1492 Missense Mutation ATG,GTG M359V NP_002888.1
NM_016836.3 1492 Missense Mutation ATG,GTG M362V NP_058520.1
XM_005246737.1 1492 Missense Mutation ATG,GTG M378V XP_005246794.1
XM_005246738.2 1492 Missense Mutation ATG,GTG M377V XP_005246795.1
XM_005246739.2 1492 Missense Mutation ATG,GTG M376V XP_005246796.1
XM_005246740.1 1492 Missense Mutation ATG,GTG M375V XP_005246797.1
XM_005246741.3 1492 Missense Mutation ATG,GTG M375V XP_005246798.1
XM_017004626.1 1492 Missense Mutation ATG,GTG M358V XP_016860115.1

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