Product Details

SNP ID

rs201493646

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7408418 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTACGGGCGAGTGCGCGGTGTG[C/T]GGCGCGAGCTCAACAACGAGATCCT

Phenotype

MIM: 606479

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NLGN2 PubMed Links

Gene Details

Gene

NLGN2

Gene Name

neuroligin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020795.3	236	Missense Mutation	CGG,TGG	R55W	NP_065846.1
XM_005256744.3	236	Missense Mutation	CGG,TGG	R55W	XP_005256801.1
XM_017024897.1	236	Intron			XP_016880386.1

Gene

TMEM256

Gene Name

transmembrane protein 256

There are no transcripts associated with this gene.

Gene

TMEM256-PLSCR3

Gene Name

TMEM256-PLSCR3 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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