Product Details

SNP ID

rs35578793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:42249439 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAAGACACCAGGGTCATGGGGCA[A/G]GCGGGCCAGCGGGGGCCCTCGGAAG

Phenotype

MIM: 611888 MIM: 606784

Polymorphism

A/G, Transition 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	698	Silent Mutation	CTG,TTG	L150L	NP_001287964.1
NM_001308402.1	698	Silent Mutation	CTG,TTG	L150L	NP_001295331.1
NM_001312656.1	698	Silent Mutation	CTG,TTG	L150L	NP_001299585.1
NM_006494.3	698	Silent Mutation	CTG,TTG	L225L	NP_006485.2
XM_017026468.1	698	Silent Mutation	CTG,TTG	L150L	XP_016881957.1
XM_017026469.1	698	Silent Mutation	CTG,TTG	L150L	XP_016881958.1

Gene

GSK3A

Gene Name

glycogen synthase kinase 3 alpha

There are no transcripts associated with this gene.

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