Product Details

SNP ID

rs56019647

Assay Type

Functionally tested

NCBI dbSNP Submissions

21

Location

Chr.1:153679653 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGACGGCTGGGCTGGGAGCGCCAAG[C/T]GCTCATGCTCTACGCCTACCGGCCG

Phenotype

MIM: 603181 MIM: 108960

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ILF2 PubMed Links

Gene Details

Gene

ILF2

Gene Name

interleukin enhancer binding factor 2

There are no transcripts associated with this gene.

Gene

NPR1

Gene Name

natriuretic peptide receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000906.3	1037	Missense Mutation	GCG,GTG	A182V	NP_000897.3
XM_005245218.1	1037	Missense Mutation	GCG,GTG	A182V	XP_005245275.1
XM_017001374.1	1037	Missense Mutation	GCG,GTG	A182V	XP_016856863.1

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