Product Details

SNP ID

rs144136339

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30949051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTGGAAAAGTCCATGAGTACTT[C/T]GGATAAGACAAGTACCAGCTCACAT

Phenotype

MIM: 613928

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DPCR1 PubMed Links

Gene Details

Gene

DPCR1

Gene Name

diffuse panbronchiolitis critical region 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080870.3	587	Missense Mutation	TCG,TTG	S196L	NP_543146.2

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