Product Details

SNP ID

rs200576931

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:565284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGCCAGGAACCCTGTTTTATGT[G/T]CCCCGAAGGCTGTAATGAAAACATT

Phenotype

MIM: 612220 MIM: 607297

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

B4GALNT3 PubMed Links

Gene Details

Gene

B4GALNT3

Gene Name

beta-1,4-N-acetyl-galactosaminyltransferase 3

There are no transcripts associated with this gene.

Gene

NINJ2

Gene Name

ninjurin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001294345.1	761	Missense Mutation	GAA,GCA	E120A	NP_001281274.1
NM_001294346.1	761	Missense Mutation	GAA,GCA	E91A	NP_001281275.1
NM_016533.5	761	Missense Mutation	GAA,GCA	E173A	NP_057617.2

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