Product Details

SNP ID
rs113031734
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:1696295 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTTGCTGGTCCCATGAACGTCGA[C/T]TATACTTCTTAAATTTATTAGGGGT
Phenotype
MIM: 602422
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLBP PubMed Links

Gene Details

Gene
SLBP
Gene Name
stem-loop binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001306074.1 1089 Missense Mutation AAT,AGT N144S NP_001293003.1
NM_001306075.1 1089 Missense Mutation AAT,AGT N140S NP_001293004.1
NM_006527.3 1089 Missense Mutation AAT,AGT N179S NP_006518.1

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