Product Details

SNP ID

rs200286228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49173236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTATTTTCTTTGTTGTCTACAT[G/T]TGTGACCTGCACACCAAGATACCAT

Phenotype

MIM: 300112 MIM: 300111

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MAGIX PubMed Links

Gene Details

Gene

MAGIX

Gene Name

MAGI family member, X-linked

There are no transcripts associated with this gene.

Gene

PLP2

Gene Name

proteolipid protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002668.2	368	Missense Mutation	ATG,ATT	M68I	NP_002659.1

Gene

PRICKLE3

Gene Name

prickle planar cell polarity protein 3

There are no transcripts associated with this gene.

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