Product Details

SNP ID

rs202031683

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35738111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACACTGGTCAGACATAACACTAC[A/G]AGACTGAGGCCGAGAGCTGCTGTCA

Phenotype

MIM: 606443 MIM: 609471 MIM: 186745

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CREB3 PubMed Links

Gene Details

Gene

CREB3

Gene Name

cAMP responsive element binding protein 3

There are no transcripts associated with this gene.

Gene

GBA2

Gene Name

glucosylceramidase beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020944.2	2742	Missense Mutation	CGT,TGT	R747C	NP_065995.1
XM_005251526.4	2742	Missense Mutation	CGT,TGT	R731C	XP_005251583.1
XM_006716809.3	2742	Missense Mutation	CGT,TGT	R753C	XP_006716872.1
XM_011517973.2	2742	Missense Mutation	CGT,TGT	R747C	XP_011516275.1
XM_017014937.1	2742	Missense Mutation	CGT,TGT	R725C	XP_016870426.1
XM_017014938.1	2742	Missense Mutation	CGT,TGT	R753C	XP_016870427.1
XM_017014939.1	2742	Missense Mutation	CGT,TGT	R725C	XP_016870428.1
XM_017014940.1	2742	Missense Mutation	CGT,TGT	R674C	XP_016870429.1
XM_017014941.1	2742	Missense Mutation	CGT,TGT	R674C	XP_016870430.1
XM_017014942.1	2742	Missense Mutation	CGT,TGT	R602C	XP_016870431.1
XM_017014943.1	2742	Missense Mutation	CGT,TGT	R596C	XP_016870432.1
XM_017014944.1	2742	Missense Mutation	CGT,TGT	R568C	XP_016870433.1
XM_017014945.1	2742	Missense Mutation	CGT,TGT	R562C	XP_016870434.1
XM_017014946.1	2742	Missense Mutation	CGT,TGT	R460C	XP_016870435.1

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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