Product Details

SNP ID

rs1466685

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49722606 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGTCTCCTACACACCTGGATGCGC[C/T]GCAGCACTGCAGGGCTCAGGATGTA

Phenotype

MIM: 615691 MIM: 615320 MIM: 606991 MIM: 614472

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AMIGO3 PubMed Links

Gene Details

Gene

AMIGO3

Gene Name

adhesion molecule with Ig like domain 3

There are no transcripts associated with this gene.

Gene

GMPPB

Gene Name

GDP-mannose pyrophosphorylase B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013334.3	799	Missense Mutation	CAG,CGG	Q184R	NP_037466.2
NM_021971.2	799	Missense Mutation	CAG,CGG	Q184R	NP_068806.1

Gene

IP6K1

Gene Name

inositol hexakisphosphate kinase 1

There are no transcripts associated with this gene.

Gene

RNF123

Gene Name

ring finger protein 123

There are no transcripts associated with this gene.

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