Product Details

SNP ID
rs201653371
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:69778361 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGAGTCTTGAATTTCTCATAGCA[C/T]CAAAATATGGCAATGAGGAGAAGCC
Phenotype
MIM: 182396 MIM: 600914
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC10A1 PubMed Links

Gene Details

Gene
SLC10A1
Gene Name
solute carrier family 10 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003049.3 1049 Nonsense Mutation TGA,TGG *305W NP_003040.1
Gene
SRSF5
Gene Name
serine and arginine rich splicing factor 5
There are no transcripts associated with this gene.

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