Product Details

SNP ID
rs201492854
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:1718299 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTGCTGCTGGGCCACGTGCACT[C/T]GGTAGGTGGTTACCTTCATCACCCA
Phenotype
MIM: 602422 MIM: 605303 MIM: 615975
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SLBP PubMed Links

Gene Details

Gene
SLBP
Gene Name
stem-loop binding protein
There are no transcripts associated with this gene.

Gene
TACC3
Gene Name
transforming acidic coiled-coil containing protein 3
There are no transcripts associated with this gene.

Gene
TMEM129
Gene Name
transmembrane protein 129
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127266.1 1053 Missense Mutation CAA,CGA Q178R NP_001120738.1
NM_138385.3 1053 Missense Mutation CAA,CGA Q178R NP_612394.1
XM_005248038.4 1053 Missense Mutation CAA,CGA Q105R XP_005248095.1
XM_005248039.4 1053 Missense Mutation CAA,CGA Q105R XP_005248096.1
XM_011513594.2 1053 Missense Mutation CAA,CGA Q105R XP_011511896.1
XM_017008834.1 1053 Missense Mutation CAA,CGA Q105R XP_016864323.1

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