Product Details

SNP ID

rs891203

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17227073 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGCCCCAGCCGGGACCCCACAAGG[C/G]AAAGACCAAGAAGATTGTGTTTGAG

Phenotype

MIM: 132880 MIM: 610675

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NR2F6 PubMed Links

Gene Details

Gene

NR2F6

Gene Name

nuclear receptor subfamily 2 group F member 6

There are no transcripts associated with this gene.

Gene

OCEL1

Gene Name

occludin/ELL domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024578.2	370	Missense Mutation	GCA,GGA	A109G	NP_078854.1
XM_005260079.2	370	Missense Mutation	GCA,GGA	A53G	XP_005260136.1
XM_006722899.3	370	Missense Mutation	GCA,GGA	A109G	XP_006722962.1
XM_017027306.1	370	Missense Mutation	GCA,GGA	A53G	XP_016882795.1

Gene

USE1

Gene Name

unconventional SNARE in the ER 1

There are no transcripts associated with this gene.

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