NM_207173.1(NPSR1):c.320A>T (p.Asn107Ile) AND Asthma-related traits, susceptibility to, 2

Clinical significance:risk factor (Last evaluated: Apr 9, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002276.3

Allele description [Variation Report for NM_207173.1(NPSR1):c.320A>T (p.Asn107Ile)]

NM_207173.1(NPSR1):c.320A>T (p.Asn107Ile)

Genes:
NPSR1-AS1:NPSR1 antisense RNA 1 [Gene - OMIM - HGNC]
NPSR1:neuropeptide S receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_207173.1(NPSR1):c.320A>T (p.Asn107Ile)
HGVS:
  • NC_000007.14:g.34778501A>T
  • NG_012185.1:g.125217A>T
  • NM_001300934.1:c.281-48900A>T
  • NM_207173.1:c.320A>T
  • NP_997056.1:p.Asn107Ile
  • NC_000007.13:g.34818113A>T
  • Q6W5P4:p.Asn107Ile
Protein change:
N107I; ASN107ILE
Links:
UniProtKB: Q6W5P4#VAR_023757; OMIM: 608595.0001; dbSNP: rs324981
NCBI 1000 Genomes Browser:
rs324981
Molecular consequence:
  • NM_001300934.1:c.281-48900A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207173.1:c.320A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Asthma-related traits, susceptibility to, 2 (ASRT2)
Synonyms:
ASTHMA SUSCEPTIBILITY 2
Identifiers:
MedGen: C1837811; OMIM: 608584

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022434OMIMno assertion criteria providedrisk factor
(Apr 9, 2004)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Characterization of a common susceptibility locus for asthma-related traits.

Laitinen T, Polvi A, Rydman P, Vendelin J, Pulkkinen V, Salmikangas P, Mäkelä S, Rehn M, Pirskanen A, Rautanen A, Zucchelli M, Gullstén H, Leino M, Alenius H, Petäys T, Haahtela T, Laitinen A, Laprise C, Hudson TJ, Laitinen LA, Kere J.

Science. 2004 Apr 9;304(5668):300-4.

PubMed [citation]
PMID:
15073379

Details of each submission

From OMIM, SCV000022434.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Laitinen et al. (2004) found a coding polymorphism SNP591694 (rs324981) in the GPRA gene in which asparagine-107 in the first exoloop lining the putative ligand-binding pocket is replaced by isoleucine (N107I). This SNP occurs within the 133-kb asthma susceptibility region that spans introns 2 to 5 of GPRA (see 608584).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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