Product Details

SNP ID

rs122462166

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:137567495 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGAGCCGGCCCAAGAAGAGCTG[A/C]GACCGGACCTTCAGCACCATGCATG

Phenotype

MIM: 300265

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ZIC3 PubMed Links

Gene Details

Gene

ZIC3

Gene Name

Zic family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003413.3	1309	Nonsense Mutation	TGA,TGC	*268C	NP_003404.1
XM_017029802.1	1309	Nonsense Mutation	TGA,TGC	*268C	XP_016885291.1

View Full Product Details