Product Details

SNP ID
rs147027538
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:2097450 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATTTCCCCAACGAGCTGCGAAAC[A/C]TCTTCCGGGAGCAGGTGCACCTCAT
Phenotype
MIM: 607246
Polymorphism
A/C, 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_001031735.2 423 Missense Mutation ATC,CTC I109L NP_001026905.2
NM_001039846.1 423 Missense Mutation ATC,CTC I109L NP_001034935.1
XM_005259480.3 423 Missense Mutation ATC,CTC I109L 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_130807.2 423 Intron NP_570719.1
XM_011527683.2 423 Intron XP_011525985.1

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