Product Details

SNP ID

rs433764

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:87935048 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTGAGCAAAAGTTTAAAATACAG[A/G]AAAAAACTCTAGGAAGAAATTCTTA

Phenotype

MIM: 606890

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

GALC PubMed Links

Additional Information

For this assay, SNP(s) [rs79558046] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GALC

Gene Name

galactosylceramidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000153.3		Intron			NP_000144.2
NM_001201401.1		Intron			NP_001188330.1
NM_001201402.1		Intron			NP_001188331.1
XM_011536618.2		Intron			XP_011534920.1

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