Product Details

SNP ID

rs45506200

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2098064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACGTGTTTCAGGCATCTTCCAGT[A/T]CGAGACCATCTCCTGCAACAACTGC

Phenotype

MIM: 607246

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

AP3D1 PubMed Links

Gene Details

Gene

AP3D1

Gene Name

adaptor related protein complex 3 delta 1 subunit

There are no transcripts associated with this gene.

Gene

IZUMO4

Gene Name

IZUMO family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031735.2	508	Missense Mutation	TAC,TTC	Y137F	NP_001026905.2
NM_001039846.1	508	Missense Mutation	TAC,TTC	Y137F	NP_001034935.1
XM_005259480.3	508	Missense Mutation	TAC,TTC	Y137F	XP_005259537.2

Gene

MOB3A

Gene Name

MOB kinase activator 3A

There are no transcripts associated with this gene.

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