Product Details

SNP ID

rs200794657

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:4799394 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCCCCCCTAGAGAGGGGGCGTG[C/T]GGAAATGGATCTTCTTGGCTGTTTC

Phenotype

MIM: 613653 MIM: 611491

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP5Z1 PubMed Links

Gene Details

Gene

AP5Z1

Gene Name

adaptor related protein complex 5 zeta 1 subunit

There are no transcripts associated with this gene.

Gene

RADIL

Gene Name

Rap associating with DIL domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018059.4	3385	Missense Mutation	CAC,CGC	H1071R	NP_060529.4

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