Product Details

SNP ID

rs139449312

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153767118 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCCCTGTAATCGACAGCCCTGA[C/G]TGCGTGCCCTTCCGTGACCCAGCCG

Phenotype

MIM: 300214

Polymorphism

C/G, Transversion 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	465	Missense Mutation	GAC,GAG	D120E	NP_001156729.1
NM_005393.2	465	Missense Mutation	GAC,GAG	D97E	NP_005384.2

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