Product Details

SNP ID
rs149960633
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:69768197 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATTCATCGGGAGACTAAATCCAG[C/T]GGCCAGGGAGAAGGACGTGGAAAGA
Phenotype
MIM: 182396 MIM: 600914
Polymorphism
C/T, Transition 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_001039465.1 221 Missense Mutation GCG,GTG A14V NP_001034554.1
NM_001320214.1 221 Missense Mutation GCG,GTG A14V NP_001307143.1
NM_006925.4 221 Missense Mutation GCG,GTG A14V NP_008856.2
XM_005267999.1 221 Missense Mutation GCG,GTG A14V XP_005268056.1
XM_005268000.1 221 Missense Mutation GCG,GTG A14V XP_005268057.1
XM_011537077.2 221 Missense Mutation GCG,GTG A14V XP_011535379.1
XM_017021593.1 221 Missense Mutation GCG,GTG A14V XP_016877082.1
XM_017021594.1 221 Intron XP_016877083.1

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