Product Details

SNP ID

rs114179135

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:42176103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCCCAGCTGATGATGCCCACCA[A/G]AGTCATGCGGCCATCGTTCAGACAC

Phenotype

MIM: 610469 MIM: 173370

Polymorphism

A/G, 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	1698	Silent Mutation	CTG,TTG	L527L	NP_000921.1
NM_001319189.1	1698	Silent Mutation	CTG,TTG	L438L	NP_001306118.1
NM_033011.3	1698	Silent Mutation	CTG,TTG	L481L	NP_127509.1

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