Product Details

SNP ID
rs200545949
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:42154695 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACTGACAATCGCCACCATGATCC[A/G]TAGTCTTTTCTTGATCAACTCCTCT
Phenotype
MIM: 610469
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AP3M2 PubMed Links

Gene Details

Gene
AP3M2
Gene Name
adaptor related protein complex 3 mu 2 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134296.1 483 Missense Mutation CAT,CGT H3R NP_001127768.1
NM_006803.3 483 Missense Mutation CAT,CGT H3R NP_006794.1
XM_017012977.1 483 Missense Mutation CAT,CGT H3R XP_016868466.1
XM_017012978.1 483 UTR 5 XP_016868467.1
XM_017012979.1 483 Intron XP_016868468.1

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