Product Details

SNP ID

rs199818168

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10575018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAAAGTGGGCTCGCATCAAGTA[C/T]TCCTTGCCCCCCTGAGGGAACATGG

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	1143	Silent Mutation	GAA,GAG	E355E	NP_001287816.1
NM_005498.4	1143	Silent Mutation	GAA,GAG	E353E	NP_005489.2

Gene

CDKN2D

Gene Name

cyclin dependent kinase inhibitor 2D

There are no transcripts associated with this gene.

Gene

KRI1

Gene Name

KRI1 homolog

There are no transcripts associated with this gene.

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