Product Details

SNP ID

rs185787445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2102245 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGCGTGGAGTCACTGCACTTCCC[A/G]TCGACTGAGACAGAGTTCTCACCCT

Phenotype

MIM: 607246

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AP3D1 PubMed Links

Gene Details

Gene

AP3D1

Gene Name

adaptor related protein complex 3 delta 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261826.1	3096	Silent Mutation	GAC,GAT	D1192D	NP_001248755.1
NM_003938.6	3096	Silent Mutation	GAC,GAT	D1130D	NP_003929.4
XM_006722932.2	3096	Silent Mutation	GAC,GAT	D1180D	XP_006722995.1
XM_017027422.1	3096	Silent Mutation	GAC,GAT	D964D	XP_016882911.1

Gene

IZUMO4

Gene Name

IZUMO family member 4

There are no transcripts associated with this gene.

Gene

MOB3A

Gene Name

MOB kinase activator 3A

There are no transcripts associated with this gene.

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