Product Details

SNP ID

rs147168186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35735136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGAACAAATTCTGAAACGTGTG[C/T]GGAGGAAGATTCGAAATAAAAGATC

Phenotype

MIM: 606443 MIM: 609471 MIM: 186745

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CREB3 PubMed Links

Gene Details

Gene

CREB3

Gene Name

cAMP responsive element binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006368.4	916	Missense Mutation	CGG,TGG	R155W	NP_006359.3

Gene

GBA2

Gene Name

glucosylceramidase beta 2

There are no transcripts associated with this gene.

Gene

MIR6853

Gene Name

microRNA 6853

There are no transcripts associated with this gene.

Gene

TLN1

Gene Name

talin 1

There are no transcripts associated with this gene.

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