Product Details

SNP ID

rs200836567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:18510918 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTGGAACGTGTGGCCTTCCAGCC[A/G]GCTGGAGGCTACAAGAATGGTTGTA

Phenotype

MIM: 610512

Polymorphism

A/G, 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	544	Missense Mutation	CAG,CGG	Q28R	NP_001166216.1
NM_001172746.1	544	Missense Mutation	CAG,CGG	Q28R	NP_001166217.1
NM_006363.4	544	Missense Mutation	CAG,CGG	Q28R	NP_006354.2
NM_032985.4	544	Missense Mutation	CAG,CGG	Q28R	NP_116780.1
NM_032986.3	544	Missense Mutation	CAG,CGG	Q28R	NP_116781.1
XM_017027593.1	544	Missense Mutation	CAG,CGG	Q28R	XP_016883082.1

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