Product Details

SNP ID

rs139325987

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:99401204 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTCTAATCTTTACCCTAGCCCTA[C/T]TGCTCTCTATTTTAATTCTGCGAGA

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	1916	Missense Mutation	AAT,AGT	N585S	NP_001309334.1
NM_001322406.1	1916	Missense Mutation	AAT,AGT	N585S	NP_001309335.1
NM_001322408.1	1916	Missense Mutation	AAT,AGT	N585S	NP_001309337.1
NM_001322410.1	1916	Missense Mutation	AAT,AGT	N585S	NP_001309339.1
NM_001322412.1	1916	Missense Mutation	AAT,AGT	N585S	NP_001309341.1
NM_001322413.1	1916	Missense Mutation	AAT,AGT	N585S	NP_001309342.1
NM_001322414.1	1916	Missense Mutation	AAT,AGT	N567S	NP_001309343.1
NM_001322415.1	1916	Missense Mutation	AAT,AGT	N567S	NP_001309344.1
NM_001322416.1	1916	Intron			NP_001309345.1
NM_001322417.1	1916	Intron			NP_001309346.1
NM_001322418.1	1916	Intron			NP_001309347.1
NM_001322419.1	1916	Intron			NP_001309348.1
NM_015491.2	1916	Missense Mutation	AAT,AGT	N585S	NP_056306.1
NM_032870.3	1916	Missense Mutation	AAT,AGT	N585S	NP_116259.2
XM_005266912.3	1916	Missense Mutation	AAT,AGT	N585S	XP_005266969.2
XM_017010710.1	1916	Missense Mutation	AAT,AGT	N567S	XP_016866199.1
XM_017010711.1	1916	Missense Mutation	AAT,AGT	N567S	XP_016866200.1
XM_017010712.1	1916	Missense Mutation	AAT,AGT	N490S	XP_016866201.1
XM_017010713.1	1916	Missense Mutation	AAT,AGT	N490S	XP_016866202.1

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