Product Details

SNP ID

rs28742045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45940481 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGAGTTGGTGTTGTAGCCGTAACT[G/T]GCCAGCGTGTTAAGCGCCGTGCTGA

Phenotype

MIM: 601991

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

NOVA2 PubMed Links

Gene Details

Gene

NOVA2

Gene Name

NOVA alternative splicing regulator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002516.3	961	Silent Mutation	GCA,GCC	A287A	NP_002507.1
XM_006723230.3	961	Silent Mutation	GCA,GCC	A178A	XP_006723293.1
XM_017026838.1	961	Silent Mutation	GCA,GCC	A178A	XP_016882327.1
XM_017026839.1	961	Silent Mutation	GCA,GCC	A178A	XP_016882328.1
XM_017026840.1	961	Silent Mutation	GCA,GCC	A178A	XP_016882329.1

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