Product Details

SNP ID

rs80341494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:79834812 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCACCTCGCCGGACTTGATCTTC[A/C]CCGCCTGCATGCCGTTCTCCATGTA

Phenotype

MIM: 603079

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CBX4 PubMed Links

Gene Details

Gene

CBX4

Gene Name

chromobox 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003655.2	2502	Missense Mutation	GGG,GTG	G277V	NP_003646.2
XM_011525399.2	2502	Missense Mutation	GGG,GTG	G211V	XP_011523701.1

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