Product Details

SNP ID

rs201684290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:1227390 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTCCCGGCCTTCAACGAGTTCT[A/G]TGCCCACAGTGAGTGCCACCTGGGT

Phenotype

MIM: 600770

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MUC5B PubMed Links

Gene Details

Gene

MUC5B

Gene Name

mucin 5B, oligomeric mucus/gel-forming

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002458.2	718	Missense Mutation	TAT,TGT	Y220C	NP_002449.2

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