Product Details

SNP ID
rs114006222
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:130507288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTTCTTACCTGCCAGATAGAGC[A/G]AATGGGAATTCTTGTTCTCAGGTAC
Phenotype
MIM: 604355 MIM: 601029
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COPG2 PubMed Links

Gene Details

Gene
COPG2
Gene Name
coatomer protein complex subunit gamma 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001290033.1 2561 Intron NP_001276962.1
NM_012133.5 2561 Missense Mutation TCG,TTG S824L NP_036265.3
Gene
MEST
Gene Name
mesoderm specific transcript
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001253900.1 2561 Intron NP_001240829.1
NM_001253901.1 2561 Intron NP_001240830.1
NM_001253902.1 2561 Intron NP_001240831.1
NM_002402.3 2561 Intron NP_002393.2
NM_177524.2 2561 Intron NP_803490.1
NM_177525.2 2561 Intron NP_803491.1
XM_011516222.1 2561 Intron XP_011514524.1
XM_017012218.1 2561 Intron XP_016867707.1

View Full Product Details