Product Details

SNP ID

rs201967222

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:42176111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGATGATGCCCACCAAAGTCATG[C/T]GGCCATCGTTCAGACACACCAGGGG

Phenotype

MIM: 610469 MIM: 173370

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP3M2 PubMed Links

Gene Details

Gene

AP3M2

Gene Name

adaptor related protein complex 3 mu 2 subunit

There are no transcripts associated with this gene.

Gene

PLAT

Gene Name

plasminogen activator, tissue type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000930.4	1690	Missense Mutation	CAC,CGC	H524R	NP_000921.1
NM_001319189.1	1690	Missense Mutation	CAC,CGC	H435R	NP_001306118.1
NM_033011.3	1690	Missense Mutation	CAC,CGC	H478R	NP_127509.1

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