Product Details

SNP ID

rs112291500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:99982472 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCGGCGCCGGGCGGCGGGCAGCA[C/G]GGGCTGTTCGGGCCGGGCGCGGGCG

Phenotype

MIM: 603073

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ZIC2 PubMed Links

Gene Details

Gene

ZIC2

Gene Name

Zic family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007129.3	472	Missense Mutation	CAC,CAG	H136Q	NP_009060.2
XM_011521110.2	472	Missense Mutation	CAC,CAG	H136Q	XP_011519412.1

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