Product Details

SNP ID

rs376790302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75762731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGCTCTTCCAGTTGTACCTCCC[A/G]GAGGCTTTCCTTGCCCAGCGCCCGG

Phenotype

MIM: 604313 MIM: 147557

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GALK1 PubMed Links

Gene Details

Gene

GALK1

Gene Name

galactokinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000154.1	829	Missense Mutation	CGG,TGG	R256W	NP_000145.1

Gene

ITGB4

Gene Name

integrin subunit beta 4

There are no transcripts associated with this gene.

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