Product Details

SNP ID

rs201505989

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:99400613 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCTTTGAGATTTCTCCACGGAT[C/T]GCGATCGACTATGTTTAGGCTTCTT

Phenotype

MIM: 605196 MIM: 616653

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COQ3 PubMed Links

Gene Details

Gene

COQ3

Gene Name

coenzyme Q3, methyltransferase

There are no transcripts associated with this gene.

Gene

PNISR

Gene Name

PNN interacting serine and arginine rich protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322405.1	2507	Missense Mutation	CAA,CGA	Q782R	NP_001309334.1
NM_001322406.1	2507	Missense Mutation	CAA,CGA	Q782R	NP_001309335.1
NM_001322408.1	2507	Missense Mutation	CAA,CGA	Q782R	NP_001309337.1
NM_001322410.1	2507	Missense Mutation	CAA,CGA	Q782R	NP_001309339.1
NM_001322412.1	2507	Missense Mutation	CAA,CGA	Q782R	NP_001309341.1
NM_001322413.1	2507	Missense Mutation	CAA,CGA	Q782R	NP_001309342.1
NM_001322414.1	2507	Missense Mutation	CAA,CGA	Q764R	NP_001309343.1
NM_001322415.1	2507	Missense Mutation	CAA,CGA	Q764R	NP_001309344.1
NM_001322416.1	2507	Intron			NP_001309345.1
NM_001322417.1	2507	Intron			NP_001309346.1
NM_001322418.1	2507	Intron			NP_001309347.1
NM_001322419.1	2507	Intron			NP_001309348.1
NM_015491.2	2507	Missense Mutation	CAA,CGA	Q782R	NP_056306.1
NM_032870.3	2507	Missense Mutation	CAA,CGA	Q782R	NP_116259.2
XM_005266912.3	2507	Missense Mutation	CAA,CGA	Q782R	XP_005266969.2
XM_017010710.1	2507	Missense Mutation	CAA,CGA	Q764R	XP_016866199.1
XM_017010711.1	2507	Missense Mutation	CAA,CGA	Q764R	XP_016866200.1
XM_017010712.1	2507	Missense Mutation	CAA,CGA	Q687R	XP_016866201.1
XM_017010713.1	2507	Missense Mutation	CAA,CGA	Q687R	XP_016866202.1

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