Product Details

SNP ID

rs13306575

Assay Type

Functionally tested

NCBI dbSNP Submissions

47

Location

Chr.1:183563302 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACCAGCTCATTGCTGTCCCGAGGCC[A/G]ATAGCTGGGTGGGGATAATGAGTAA

Phenotype

MIM: 608515 MIM: 610964

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NCF2 PubMed Links

Gene Details

Gene

NCF2

Gene Name

neutrophil cytosolic factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000433.3	1458	Silent Mutation	AGG,GGG	R395G	NP_000424.2
NM_001127651.2	1458	Silent Mutation	AGG,GGG	R395G	NP_001121123.1
NM_001190789.1	1458	Silent Mutation	AGG,GGG	R314G	NP_001177718.1
NM_001190794.1	1458	Silent Mutation	AGG,GGG	R350G	NP_001177723.1
XM_005245207.1	1458	Silent Mutation	AGG,GGG	R359G	XP_005245264.1
XM_011509580.1	1458	Missense Mutation	AGG,GGG	R395G	XP_011507882.1
XM_011509581.1	1458	Silent Mutation	AGG,GGG	R395G	XP_011507883.1

Gene

SMG7

Gene Name

SMG7, nonsense mediated mRNA decay factor

There are no transcripts associated with this gene.

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