Product Details

SNP ID

rs139117542

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50348220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCAGTATAGCTGGAACACATCC[C/T]GGAGACTGGCCCTCTTGTGCCCTGT

Phenotype

MIM: 607068 MIM: 607072 MIM: 605082 MIM: 607069 MIM: 607070

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYB561D2 PubMed Links

Gene Details

Gene

CYB561D2

Gene Name

cytochrome b561 family member D2

There are no transcripts associated with this gene.

Gene

NPRL2

Gene Name

NPR2-like, GATOR1 complex subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006545.4	1239	Missense Mutation	CAG,CGG	Q279R	NP_006536.3
XM_005264808.4	1239	Missense Mutation	CAG,CGG	Q159R	XP_005264865.1
XM_011533288.2	1239	Missense Mutation	CAG,CGG	Q276R	XP_011531590.1
XM_017005555.1	1239	Missense Mutation	CAG,CGG	Q159R	XP_016861044.1
XM_017005556.1	1239	Missense Mutation	CAG,CGG	Q159R	XP_016861045.1

Gene

RASSF1

Gene Name

Ras association domain family member 1

There are no transcripts associated with this gene.

Gene

RASSF1-AS1

Gene Name

RASSF1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

TMEM115

Gene Name

transmembrane protein 115

There are no transcripts associated with this gene.

Gene

ZMYND10

Gene Name

zinc finger MYND-type containing 10

There are no transcripts associated with this gene.

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