Product Details

SNP ID

rs199693204

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49173407 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACAGGATTTCTTCCGAACCCTCA[C/T]AGCGGCAATCCTCTACCTGATCACC

Phenotype

MIM: 300112 MIM: 300111

Polymorphism

C/T, Transition 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	433	Missense Mutation	ACA,ATA	T90I	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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