Product Details

SNP ID

rs190000983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:1015966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACACAAAGCCTGATGTGGGAACTC[A/G]GGTGGTGAGAGAAGTGGACCGCGAG

Phenotype

MIM: 607242 MIM: 158374

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AP2A2 PubMed Links

Gene Details

Gene

AP2A2

Gene Name

adaptor related protein complex 2 alpha 2 subunit

There are no transcripts associated with this gene.

Gene

MUC6

Gene Name

mucin 6, oligomeric mucus/gel-forming

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005961.2	6886	Nonsense Mutation	CGA,TGA	R2279*	NP_005952.2

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