Product Details

SNP ID

rs114481539

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107564340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTTCGTTTGCCCTCCACACTCA[C/T]AAGAGTCACGCGTTAGTTGCTACAC

Phenotype

MIM: 606821

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COG5 PubMed Links

Gene Details

Gene

COG5

Gene Name

component of oligomeric golgi complex 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161520.1	175	UTR 5			NP_001154992.1
NM_006348.3	175	UTR 5			NP_006339.3
NM_181733.2	175	UTR 5			NP_859422.2

Gene

DUS4L

Gene Name

dihydrouridine synthase 4 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270419.1	175	Intron			NP_001257348.1
NM_181581.2	175	Intron			NP_853559.1
XM_005250125.4	175	Intron			XP_005250182.1
XM_006715844.2	175	Intron			XP_006715907.1
XM_006715845.3	175	Intron			XP_006715908.1
XM_011515766.2	175	Intron			XP_011514068.1
XM_011515767.2	175	Intron			XP_011514069.1
XM_017011708.1	175	Intron			XP_016867197.1
XM_017011709.1	175	Intron			XP_016867198.1
XM_017011710.1	175	Intron			XP_016867199.1
XM_017011711.1	175	Intron			XP_016867200.1
XM_017011712.1	175	Intron			XP_016867201.1
XM_017011713.1	175	Intron			XP_016867202.1

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