Product Details

SNP ID

rs149251479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96840239 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCACCGTGCCCCTCACCTTGTCC[C/T]GGGCATTGACCCGGGCTCCCTGGTT

Phenotype

MIM: 610736 MIM: 607804

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKRD23 PubMed Links

Gene Details

Gene

ANKRD23

Gene Name

ankyrin repeat domain 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144994.7	646	Missense Mutation	CAG,CGG	Q206R	NP_659431.5

Gene

ANKRD39

Gene Name

ankyrin repeat domain 39

There are no transcripts associated with this gene.

Gene

CNNM3

Gene Name

cyclin and CBS domain divalent metal cation transport mediator 3

There are no transcripts associated with this gene.

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