Product Details

SNP ID

rs75585997

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:151132600 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACCCTTTTCAGGGCGCGGCCCC[A/G]GTAGCCCTCGGGCCGGCCCAGGTAC

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	3989	Missense Mutation	CGG,TGG	R925W	NP_001171532.1
NM_001178062.1	3989	Missense Mutation	CGG,TGG	R885W	NP_001171533.1
NM_030913.4	3989	Missense Mutation	CGG,TGG	R893W	NP_112175.2
XM_005244835.3	3989	Missense Mutation	CGG,TGG	R925W	XP_005244892.1
XM_017000075.1	3989	Missense Mutation	CGG,TGG	R925W	XP_016855564.1
XM_017000076.1	3989	Missense Mutation	CGG,TGG	R925W	XP_016855565.1
XM_017000077.1	3989	Missense Mutation	CGG,TGG	R925W	XP_016855566.1
XM_017000078.1	3989	Missense Mutation	CGG,TGG	R893W	XP_016855567.1
XM_017000079.1	3989	Missense Mutation	CGG,TGG	R893W	XP_016855568.1
XM_017000080.1	3989	Missense Mutation	CGG,TGG	R885W	XP_016855569.1
XM_017000081.1	3989	Missense Mutation	CGG,TGG	R885W	XP_016855570.1
XM_017000082.1	3989	Missense Mutation	CGG,TGG	R660W	XP_016855571.1

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