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SNP ID

rs1063897

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:42248970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCTGCCGGCGTCCGAGTGGGGGC[C/G]GCTGGAGCTTAAACTTGAATGGGGA

Phenotype

MIM: 611888 MIM: 606784

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ERF PubMed Links

Gene Details

Gene

ERF

Gene Name

ETS2 repressor factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301035.1	1167	Missense Mutation	CCG,CGG	P306R	NP_001287964.1
NM_001308402.1	1167	Missense Mutation	CCG,CGG	P306R	NP_001295331.1
NM_001312656.1	1167	Missense Mutation	CCG,CGG	P306R	NP_001299585.1
NM_006494.3	1167	Missense Mutation	CCG,CGG	P381R	NP_006485.2
XM_017026468.1	1167	Missense Mutation	CCG,CGG	P306R	XP_016881957.1
XM_017026469.1	1167	Missense Mutation	CCG,CGG	P306R	XP_016881958.1

Gene

GSK3A

Gene Name

glycogen synthase kinase 3 alpha

There are no transcripts associated with this gene.

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