Product Details

SNP ID

rs2301119

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:87935560 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGACAGTGAAAGAAAAAATTACA[A/C]CTTCCTCCGAATGTTGCCATTCTAC

Phenotype

MIM: 606890

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GALC PubMed Links

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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