Product Details

SNP ID
rs151126375
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:18510981 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTTACTCCTTTGAAAGAACGTC[C/T]AGACCTACCTCCTGTACAATATGAA
Phenotype
MIM: 610512
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SEC23B PubMed Links

Gene Details

Gene
SEC23B
Gene Name
Sec23 homolog B, coat complex II component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172745.1 607 Missense Mutation CCA,CTA P49L NP_001166216.1
NM_001172746.1 607 Missense Mutation CCA,CTA P49L NP_001166217.1
NM_006363.4 607 Missense Mutation CCA,CTA P49L NP_006354.2
NM_032985.4 607 Missense Mutation CCA,CTA P49L NP_116780.1
NM_032986.3 607 Missense Mutation CCA,CTA P49L NP_116781.1
XM_017027593.1 607 Missense Mutation CCA,CTA P49L XP_016883082.1

View Full Product Details