Product Details

SNP ID
rs200473997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:69768825 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTATTGAACATGCTAGGGCTCG[C/G]TCACGAGGTGGAAGAGGTAGAGGAC
Phenotype
MIM: 182396 MIM: 600914
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LOC100289511 PubMed Links

Gene Details

Gene
LOC100289511
Gene Name
uncharacterized LOC100289511
There are no transcripts associated with this gene.

Gene
SLC10A1
Gene Name
solute carrier family 10 member 1
There are no transcripts associated with this gene.

Gene
SRSF5
Gene Name
serine and arginine rich splicing factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039465.1 405 Silent Mutation CGC,CGG R75R NP_001034554.1
NM_001320214.1 405 Silent Mutation CGC,CGG R75R NP_001307143.1
NM_006925.4 405 Silent Mutation CGC,CGG R75R NP_008856.2
XM_005267999.1 405 Silent Mutation CGC,CGG R75R XP_005268056.1
XM_005268000.1 405 Silent Mutation CGC,CGG R75R XP_005268057.1
XM_011537077.2 405 Intron XP_011535379.1
XM_017021593.1 405 Silent Mutation CGC,CGG R75R XP_016877082.1
XM_017021594.1 405 Intron XP_016877083.1

View Full Product Details