Product Details

SNP ID
rs190721221
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:18510840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCAGTTCCCTTTTAGACTATGG[C/T]GACATACCTGGAGTTCATCCAGCAG
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_001172745.1 466 Missense Mutation GCG,GTG A2V NP_001166216.1
NM_001172746.1 466 Missense Mutation GCG,GTG A2V NP_001166217.1
NM_006363.4 466 Missense Mutation GCG,GTG A2V NP_006354.2
NM_032985.4 466 Missense Mutation GCG,GTG A2V NP_116780.1
NM_032986.3 466 Missense Mutation GCG,GTG A2V NP_116781.1
XM_017027593.1 466 Missense Mutation GCG,GTG A2V XP_016883082.1

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