Product Details

SNP ID
rs2148504
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:69770525 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAACGTTTGCGGATGCACACCGAC[C/T]TAAATTAAATGAAGGGTATGTACTG
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_001039465.1 605 Missense Mutation CCT,CTT P142L NP_001034554.1
NM_001320214.1 605 Missense Mutation CCT,CTT P142L NP_001307143.1
NM_006925.4 605 Missense Mutation CCT,CTT P142L NP_008856.2
XM_005267999.1 605 Missense Mutation CCT,CTT P142L XP_005268056.1
XM_005268000.1 605 Missense Mutation CCT,CTT P142L XP_005268057.1
XM_011537077.2 605 Missense Mutation CCT,CTT P109L XP_011535379.1
XM_017021593.1 605 Missense Mutation CCT,CTT P142L XP_016877082.1
XM_017021594.1 605 Missense Mutation CCT,CTT P15L XP_016877083.1

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