Product Details

SNP ID

rs187713478

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49164972 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCATTTCTCTGTGGAGCTGGTTC[A/G]CGGTTACGCAGGCTTTGGCCTCACC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099681.2	457	Intron			NP_001093151.2
NM_001099682.2	457	Intron			NP_001093152.2
NM_024859.3	457	Missense Mutation	CAC,CGC	H130R	NP_079135.3
XM_005278062.4	457	Missense Mutation	CAC,CGC	H115R	XP_005278119.1
XM_005278063.4	457	Missense Mutation	CAC,CGC	H115R	XP_005278120.1
XM_005278064.4	457	Missense Mutation	CAC,CGC	H71R	XP_005278121.1
XM_005278065.3	457	Missense Mutation	CAC,CGC	H71R	XP_005278122.1
XM_006724560.3	457	Missense Mutation	CAC,CGC	H130R	XP_006724623.1
XM_011543985.2	457	Missense Mutation	CAC,CGC	H71R	XP_011542287.1
XM_011543986.2	457	Missense Mutation	CAC,CGC	H71R	XP_011542288.1
XM_011543987.2	457	Missense Mutation	CAC,CGC	H71R	XP_011542289.1

Gene

PLP2

Gene Name

proteolipid protein 2

There are no transcripts associated with this gene.

Gene

PRICKLE3

Gene Name

prickle planar cell polarity protein 3

There are no transcripts associated with this gene.

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