Product Details

SNP ID: rs1000245
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:18920278 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CTGCTCCTCTAGCCCAACCCAGTTT[C/G]GCCATTAAAGAGAGGCCCACAGGAA
Phenotype: MIM: 606942 MIM: 604800
Polymorphism: C/G, Transversion 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		Intron			NP_009194.2
NM_199442.1		Intron			NP_955474.1
NM_199444.1		Intron			NP_955476.1
XM_011527655.1		Intron			XP_011525957.1
XM_011527656.1		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		Intron			NP_061943.2
XM_011528083.1		Intron			XP_011526385.1
XM_011528084.2		Intron			XP_011526386.1

Gene: HOMER3
Gene Name: homer scaffolding protein 3

There are no transcripts associated with this gene.

View Full Product Details