Product Details

SNP ID

rs201497020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49174350 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCCCAGGTACTGGGCCTAATC[A/G]CTACGTGCCTCTTTGGCTATGATGC

Phenotype

MIM: 300112 MIM: 300111

Polymorphism

A/G, 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	525	Missense Mutation	ACT,GCT	T121A	NP_002659.1

Gene

PRICKLE3

Gene Name

prickle planar cell polarity protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001307979.1	525	Intron			NP_001294908.1
NM_006150.4	525	Intron			NP_006141.2

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