Product Details

SNP ID

rs139472078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:43027250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCTGATGCTGTGCTCATCTGCTT[C/G]GACATTAGCCGACCAGAAACACTGG

Phenotype

MIM: 601555 MIM: 604631

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RND2 PubMed Links

Gene Details

Gene

RND2

Gene Name

Rho family GTPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005440.4	205	Missense Mutation	TTC,TTG	F86L	NP_005431.1
XM_011525316.1	205	Missense Mutation	TTC,TTG	F86L	XP_011523618.1
XM_011525317.2	205	Missense Mutation	TTC,TTG	F58L	XP_011523619.1

Gene

VAT1

Gene Name

vesicle amine transport 1

There are no transcripts associated with this gene.

View Full Product Details