Product Details

SNP ID
rs142424836
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41358018 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACGCCTGACAGGAGCTTCCATGC[C/T]GCCCCTGCAGTGAGAGCCGGGACAT
Phenotype
MIM: 611951 MIM: 190180
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
B9D2 PubMed Links

Gene Details

Gene
B9D2
Gene Name
B9 protein domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030578.3 313 Silent Mutation GCA,GCG A31A NP_085055.2
XM_011527349.2 313 Silent Mutation GCA,GCG A31A XP_011525651.1
XM_011527350.1 313 UTR 5 XP_011525652.1
Gene
TGFB1
Gene Name
transforming growth factor beta 1
There are no transcripts associated with this gene.

Gene
TMEM91
Gene Name
transmembrane protein 91
There are no transcripts associated with this gene.

View Full Product Details