Product Details

SNP ID

rs1042030

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:87934137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGTGTTAGAGGTAGTTTATTAAA[C/G]AGGCATTTTTAAAATCATCCCACTC

Phenotype

MIM: 606890

Polymorphism

C/G, 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	3042	UTR 3			NP_000144.2
NM_001201401.1	3042	UTR 3			NP_001188330.1
NM_001201402.1	3042	UTR 3			NP_001188331.1
XM_011536618.2	3042	UTR 3			XP_011534920.1

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