Product Details

SNP ID

rs142052998

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:155210565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATATCAGGAACTCTGCCTGCCCTT[C/T]GGACCAGTCATGGAGAGGTCATCTC

Phenotype

MIM: 600605 MIM: 188062

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GBAP1 PubMed Links

Gene Details

Gene

GBAP1

Gene Name

glucosylceramidase beta pseudogene 1

There are no transcripts associated with this gene.

Gene

MTX1

Gene Name

metaxin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002455.4	722	Missense Mutation	CGG,TGG	R206W	NP_002446.3
NM_198883.3	722	Missense Mutation	CGG,TGG	R206W	NP_942584.2

Gene

THBS3

Gene Name

thrombospondin 3

There are no transcripts associated with this gene.

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