Product Details

SNP ID

rs139869066

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18919802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCGTGGAACAATGTCGGCAGCTG[A/G]GTTTGAAGCAGCCCACGCCCGTGCA

Phenotype

MIM: 606942 MIM: 604800

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COPE PubMed Links

Gene Details

Gene

COPE

Gene Name

coatomer protein complex subunit epsilon

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007263.3	128	Intron			NP_009194.2
NM_199442.1	128	Intron			NP_955474.1
NM_199444.1	128	Intron			NP_955476.1
XM_011527655.1	128	Intron			XP_011525957.1
XM_011527656.1	128	Intron			XP_011525958.1

Gene

DDX49

Gene Name

DEAD-box helicase 49

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019070.4	128	Missense Mutation	AGT,GGT	S21G	NP_061943.2
XM_011528083.1	128	UTR 5			XP_011526385.1
XM_011528084.2	128	UTR 5			XP_011526386.1

Gene

HOMER3

Gene Name

homer scaffolding protein 3

There are no transcripts associated with this gene.

View Full Product Details