Product Details

SNP ID

rs200315690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10577198 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCCGCCAGTCCCTGGTACTTAC[C/T]GGGAAAGACTTAATACTCCAAATCA

Phenotype

MIM: 607309 MIM: 600927

Polymorphism

C/T, Transition 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	1131	Silent Mutation	CCA,CCG	P351P	NP_001287816.1
NM_005498.4	1131	Silent Mutation	CCA,CCG	P349P	NP_005489.2

Gene

CDKN2D

Gene Name

cyclin dependent kinase inhibitor 2D

There are no transcripts associated with this gene.

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