Product Details

SNP ID
rs76122083
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:244843665 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCATTCATCATTTGACAGTGTTC[C/T]CTCATTTCTTAAAATGCGAGTCATC
Phenotype
MIM: 614698 MIM: 602869
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COX20 PubMed Links

Gene Details

Gene
COX20
Gene Name
COX20, cytochrome c oxidase assembly factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001312871.1 1113 UTR 3 NP_001299800.1
NM_001312872.1 1113 UTR 3 NP_001299801.1
NM_001312873.1 1113 UTR 3 NP_001299802.1
NM_001312874.1 1113 UTR 3 NP_001299803.1
NM_198076.5 1113 UTR 3 NP_932342.1
Gene
HNRNPU
Gene Name
heterogeneous nuclear ribonucleoprotein U
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004501.3 1113 Intron NP_004492.2
NM_031844.2 1113 Intron NP_114032.2
XM_017001115.1 1113 UTR 3 XP_016856604.1
XM_017001116.1 1113 UTR 3 XP_016856605.1
XM_017001117.1 1113 UTR 3 XP_016856606.1

View Full Product Details