Product Details

SNP ID

rs199765267

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35737900 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCCTGGACGTTCAGCTCAAAGA[C/T]AGTTTGGAGAGCACGGACCACATGT

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	2856	Intron			NP_006359.3

Gene

GBA2

Gene Name

glucosylceramidase beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020944.2	2856	Missense Mutation	ATC,GTC	I785V	NP_065995.1
XM_005251526.4	2856	Missense Mutation	ATC,GTC	I769V	XP_005251583.1
XM_006716809.3	2856	Missense Mutation	ATC,GTC	I791V	XP_006716872.1
XM_011517973.2	2856	Missense Mutation	ATC,GTC	I785V	XP_011516275.1
XM_017014937.1	2856	Missense Mutation	ATC,GTC	I763V	XP_016870426.1
XM_017014938.1	2856	Missense Mutation	ATC,GTC	I791V	XP_016870427.1
XM_017014939.1	2856	Missense Mutation	ATC,GTC	I763V	XP_016870428.1
XM_017014940.1	2856	Missense Mutation	ATC,GTC	I712V	XP_016870429.1
XM_017014941.1	2856	Missense Mutation	ATC,GTC	I712V	XP_016870430.1
XM_017014942.1	2856	Missense Mutation	ATC,GTC	I640V	XP_016870431.1
XM_017014943.1	2856	Missense Mutation	ATC,GTC	I634V	XP_016870432.1
XM_017014944.1	2856	Missense Mutation	ATC,GTC	I606V	XP_016870433.1
XM_017014945.1	2856	Missense Mutation	ATC,GTC	I600V	XP_016870434.1
XM_017014946.1	2856	Missense Mutation	ATC,GTC	I498V	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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