Product Details

SNP ID

rs144513627

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153767131 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGACAGCCCTGACTGCGTGCCCTTC[C/T]GTGACCCAGCCGAGTGCCCACAGGC

Phenotype

MIM: 300214

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLXNB3 PubMed Links

Gene Details

Gene

PLXNB3

Gene Name

plexin B3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001163257.1	478	Missense Mutation	CGT,TGT	R125C	NP_001156729.1
NM_005393.2	478	Missense Mutation	CGT,TGT	R102C	NP_005384.2

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