Product Details

SNP ID

rs202096478

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:151133071 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCGCCCGCCGCGTGCCCGCCCC[A/G]TGAGCGGCCCGGACCCTCCTTGGCG

Phenotype

MIM: 609294

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GABPB2 PubMed Links

Gene Details

Gene

GABPB2

Gene Name

GA binding protein transcription factor beta subunit 2

There are no transcripts associated with this gene.

Gene

SEMA6C

Gene Name

semaphorin 6C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178061.1	3518	Missense Mutation	CGG,TGG	R768W	NP_001171532.1
NM_001178062.1	3518	Missense Mutation	CGG,TGG	R728W	NP_001171533.1
NM_030913.4	3518	Missense Mutation	CGG,TGG	R736W	NP_112175.2
XM_005244835.3	3518	Missense Mutation	CGG,TGG	R768W	XP_005244892.1
XM_017000075.1	3518	Missense Mutation	CGG,TGG	R768W	XP_016855564.1
XM_017000076.1	3518	Missense Mutation	CGG,TGG	R768W	XP_016855565.1
XM_017000077.1	3518	Missense Mutation	CGG,TGG	R768W	XP_016855566.1
XM_017000078.1	3518	Missense Mutation	CGG,TGG	R736W	XP_016855567.1
XM_017000079.1	3518	Missense Mutation	CGG,TGG	R736W	XP_016855568.1
XM_017000080.1	3518	Missense Mutation	CGG,TGG	R728W	XP_016855569.1
XM_017000081.1	3518	Missense Mutation	CGG,TGG	R728W	XP_016855570.1
XM_017000082.1	3518	Missense Mutation	CGG,TGG	R503W	XP_016855571.1

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