Product Details

SNP ID

rs144874497

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:57154468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACTAGTGAAGTTGGTGCCATTTT[C/G]TGTATCTTCTGCACCTAAGGAGGAA

Phenotype

MIM: 611168

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DUXA PubMed Links

Gene Details

Gene

DUXA

Gene Name

double homeobox A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012729.1	604	Missense Mutation	CAA,GAA	Q187E	NP_001012747.1

Gene

ZIM3

Gene Name

zinc finger imprinted 3

There are no transcripts associated with this gene.

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