Product Details

SNP ID

rs138793522

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:35297867 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGGCGCCTCAGCCATGGCCCTGC[A/G]CAAGGAACTGCTCAAGTCCATCTGG

Phenotype

MIM: 610094 MIM: 194549

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DEF6 PubMed Links

Gene Details

Gene

DEF6

Gene Name

DEF6, guanine nucleotide exchange factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022047.3	50	Missense Mutation	CAC,CGC	H4R	NP_071330.3

Gene

ZNF76

Gene Name

zinc finger protein 76

There are no transcripts associated with this gene.

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