Product Details

SNP ID
rs200214356
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:160278647 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATGGTGTGCTCCATTGAGGGAGT[C/T]AACACGGCACCCTGGGGAGTTGGAG
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 1371 Silent Mutation TTA,TTG L318L NP_002888.1
NM_016836.3 1371 Silent Mutation TTA,TTG L321L NP_058520.1
XM_005246737.1 1371 Silent Mutation TTA,TTG L337L XP_005246794.1
XM_005246738.2 1371 Silent Mutation TTA,TTG L336L XP_005246795.1
XM_005246739.2 1371 Silent Mutation TTA,TTG L335L XP_005246796.1
XM_005246740.1 1371 Silent Mutation TTA,TTG L334L XP_005246797.1
XM_005246741.3 1371 Silent Mutation TTA,TTG L334L XP_005246798.1
XM_017004626.1 1371 Silent Mutation TTA,TTG L317L XP_016860115.1

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