Product Details

SNP ID: rs146424829
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:2098097 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATCTCCTGCAACAACTGCACAGACT[C/T]GCACGTCGCCTGCTTTGGCTATAAC
Phenotype: MIM: 607246
Polymorphism: C/T, 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	541	Missense Mutation	TCG,TTG	S148L	NP_001026905.2
NM_001039846.1	541	Missense Mutation	TCG,TTG	S148L	NP_001034935.1
XM_005259480.3	541	Missense Mutation	TCG,TTG	S148L	XP_005259537.2

Gene: MOB3A
Gene Name: MOB kinase activator 3A

There are no transcripts associated with this gene.

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