Product Details

SNP ID: rs148791498
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:49175872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCTGATGATTCGGAACTGGAACTG[C/G]AGGGCGAGCTGGAGCAAGATTCCGA
Phenotype: MIM: 300112 MIM: 300111
Polymorphism: C/G, 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	1752	Intron			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	1752	Missense Mutation	TCC,TGC	S482C	NP_001294908.1
NM_006150.4	1752	Missense Mutation	TCC,TGC	S550C	NP_006141.2

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