Product Details

SNP ID

rs201819599

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2097049 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAAGTTCTCCTTCTACCGCCACC[A/G]TGTGAACTTCAAGTCCTGGTGGGTG

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

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	202	Missense Mutation	CAT,CGT	H35R	NP_001026905.2
NM_001039846.1	202	Missense Mutation	CAT,CGT	H35R	NP_001034935.1
XM_005259480.3	202	Missense Mutation	CAT,CGT	H35R	XP_005259537.2

Gene

MOB3A

Gene Name

MOB kinase activator 3A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_130807.2	202	Intron			NP_570719.1
XM_011527683.2	202	Intron			XP_011525985.1

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