Product Details

SNP ID

rs1128397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:21693288 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCGGTTCCCACAGCCTACAAGGCC[A/T]GTTTCAGCATCAGGACAGACAGCAC

Phenotype

MIM: 601956

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GFRA2 PubMed Links

Gene Details

Gene

GFRA2

Gene Name

GDNF family receptor alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165038.1	1745	Missense Mutation	CAG,CTG	Q357L	NP_001158510.1
NM_001165039.1	1745	Missense Mutation	CAG,CTG	Q329L	NP_001158511.1
NM_001495.4	1745	Missense Mutation	CAG,CTG	Q462L	NP_001486.4
XM_006716327.3	1745	Missense Mutation	CAG,CTG	Q462L	XP_006716390.1
XM_011544484.2	1745	Missense Mutation	CAG,CTG	Q462L	XP_011542786.1

View Full Product Details