Product Details

SNP ID

rs145300090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:21393710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGGTCGGCTCCTGGCCACCACCT[C/T]GTGCTCTAGCTTTAAAGTCAGACTC

Phenotype

MIM: 610528 MIM: 605012

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHD8 PubMed Links

Gene Details

Gene

CHD8

Gene Name

chromodomain helicase DNA binding protein 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170629.1	5395	Missense Mutation	AAG,GAG	K2029E	NP_001164100.1
NM_020920.3	5395	Missense Mutation	AAG,GAG	K1750E	NP_065971.2

Gene

SNORD8

Gene Name

small nucleolar RNA, C/D box 8

There are no transcripts associated with this gene.

Gene

SNORD9

Gene Name

small nucleolar RNA, C/D box 9

There are no transcripts associated with this gene.

Gene

SUPT16H

Gene Name

SPT16 homolog, facilitates chromatin remodeling subunit

There are no transcripts associated with this gene.

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