Product Details

SNP ID

rs144367640

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:123253362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTAGACAGCTTCCGTTTCACATGT[C/G]GTGGAGGTTCCCAAGTGTCACTATC

Phenotype

MIM: 604764

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ZHX1 PubMed Links

Gene Details

Gene

ZHX1

Gene Name

zinc fingers and homeoboxes 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017926.2	3290	Missense Mutation	CCA,CGA	P862R	NP_001017926.1
NM_007222.4	3290	Missense Mutation	CCA,CGA	P862R	NP_009153.3

Gene

ZHX1-C8orf76

Gene Name

ZHX1-C8orf76 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204180.1	3290	Intron			NP_001191109.1

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