Product Details

SNP ID

rs79123414

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10578893 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATAAGCATTCCCCCAAGGCCCACC[G/T]TGACCATGATCTCCACGCGGCTGTG

Phenotype

MIM: 607309 MIM: 600927

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

AP1M2 PubMed Links

Gene Details

Gene

AP1M2

Gene Name

adaptor related protein complex 1 mu 2 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300887.1	971	Missense Mutation	AAG,ACG	K298T	NP_001287816.1
NM_005498.4	971	Missense Mutation	AAG,ACG	K296T	NP_005489.2

Gene

CDKN2D

Gene Name

cyclin dependent kinase inhibitor 2D

There are no transcripts associated with this gene.

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