Product Details

SNP ID

rs200357192

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:565972 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAATGACCACGAGCAGGACACC[A/G]ATGACCACCTGCAGGAGCAGAGAGA

Phenotype

MIM: 612220 MIM: 607297

Polymorphism

A/G, Transition 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	621	Silent Mutation	ATC,ATT	I73I	NP_001281274.1
NM_001294346.1	621	Silent Mutation	ATC,ATT	I44I	NP_001281275.1
NM_016533.5	621	Silent Mutation	ATC,ATT	I126I	NP_057617.2

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