Product Details

SNP ID
rs144749900
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:74124486 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCAGTCCTTTAAGACTTGGGAG[C/G]TTTTGTGGAGTAATTTTTCCCACAT
Phenotype
MIM: 610366 MIM: 193065
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
AP3M1 PubMed Links

Gene Details

Gene
AP3M1
Gene Name
adaptor related protein complex 3 mu 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320263.1 1384 Missense Mutation AAC,AAG N350K NP_001307192.1
NM_001320264.1 1384 Missense Mutation AAC,AAG N350K NP_001307193.1
NM_001320265.1 1384 Missense Mutation AAC,AAG N296K NP_001307194.1
NM_012095.5 1384 Missense Mutation AAC,AAG N350K NP_036227.1
NM_207012.3 1384 Missense Mutation AAC,AAG N350K NP_996895.1
Gene
VCL
Gene Name
vinculin
There are no transcripts associated with this gene.

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