Product Details

SNP ID
rs141084862
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:18511053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTGTAAAGCTGTTCTCAACCCAC[G/T]TTGGTATGGATTCTTTTGAAACTGG
Phenotype
MIM: 610512
Polymorphism
G/T, Transversion 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_001172745.1 679 Missense Mutation CGT,CTT R73L NP_001166216.1
NM_001172746.1 679 Missense Mutation CGT,CTT R73L NP_001166217.1
NM_006363.4 679 Missense Mutation CGT,CTT R73L NP_006354.2
NM_032985.4 679 Missense Mutation CGT,CTT R73L NP_116780.1
NM_032986.3 679 Missense Mutation CGT,CTT R73L NP_116781.1
XM_017027593.1 679 Missense Mutation CGT,CTT R73L XP_016883082.1

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