Product Details

SNP ID
rs147934161
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:160275686 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGAATGGTCATTAGACGTCTCG[A/C]CAGCCACCTGCTGTTGACCACTTGC
Phenotype
MIM: 602310
Polymorphism
A/C, Transversion 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 1580 Missense Mutation GGC,GTC G388V NP_002888.1
NM_016836.3 1580 Missense Mutation GGC,GTC G391V NP_058520.1
XM_005246737.1 1580 Missense Mutation GGC,GTC G407V XP_005246794.1
XM_005246738.2 1580 Missense Mutation GGC,GTC G406V XP_005246795.1
XM_005246739.2 1580 Missense Mutation GGC,GTC G405V XP_005246796.1
XM_005246740.1 1580 Missense Mutation GGC,GTC G404V XP_005246797.1
XM_005246741.3 1580 Missense Mutation GGC,GTC G404V XP_005246798.1
XM_017004626.1 1580 Missense Mutation GGC,GTC G387V XP_016860115.1

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