Product Details

SNP ID

rs143327592

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7890680 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCGGAAACGAAGAAGGAAGCACC[A/G]AGAAAAAAAGGAGAAGAAGACAAAG

Phenotype

MIM: 602120

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHD3 PubMed Links

Gene Details

Gene

CHD3

Gene Name

chromodomain helicase DNA binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005271.2	543	Missense Mutation	CAA,CGA	Q167R	NP_001005271.2
NM_001005273.2	543	Missense Mutation	CAA,CGA	Q108R	NP_001005273.1
NM_005852.3	543	Missense Mutation	CAA,CGA	Q108R	NP_005843.2
XM_005256427.4	543	Missense Mutation	CAA,CGA	Q167R	XP_005256484.1
XM_005256428.4	543	Missense Mutation	CAA,CGA	Q167R	XP_005256485.1
XM_005256429.4	543	Missense Mutation	CAA,CGA	Q167R	XP_005256486.1
XM_005256431.4	543	Missense Mutation	CAA,CGA	Q167R	XP_005256488.1
XM_006721423.3	543	Missense Mutation	CAA,CGA	Q167R	XP_006721486.1
XM_006721424.3	543	Missense Mutation	CAA,CGA	Q167R	XP_006721487.1
XM_006721428.3	543	Missense Mutation	CAA,CGA	Q167R	XP_006721491.1
XM_017024061.1	543	Missense Mutation	CAA,CGA	Q167R	XP_016879550.1
XM_017024062.1	543	Missense Mutation	CAA,CGA	Q167R	XP_016879551.1
XM_017024063.1	543	Missense Mutation	CAA,CGA	Q108R	XP_016879552.1
XM_017024064.1	543	Missense Mutation	CAA,CGA	Q167R	XP_016879553.1
XM_017024065.1	543	Missense Mutation	CAA,CGA	Q167R	XP_016879554.1
XM_017024066.1	543	Missense Mutation	CAA,CGA	Q88R	XP_016879555.1
XM_017024067.1	543	Missense Mutation	CAA,CGA	Q97R	XP_016879556.1
XM_017024068.1	543	Missense Mutation	CAA,CGA	Q88R	XP_016879557.1
XM_017024069.1	543	UTR 5			XP_016879558.1
XM_017024070.1	543	Missense Mutation	CAA,CGA	Q167R	XP_016879559.1

Gene

NAA38

Gene Name

N(alpha)-acetyltransferase 38, NatC auxiliary subunit

There are no transcripts associated with this gene.

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