Product Details

SNP ID
rs146829042
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:93239925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGTGCCATAGAGAGTCTCCGGGT[C/G]CCTGGAAAGGTATTGAGCTACACGT
Phenotype
MIM: 614133 MIM: 616465
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HEPACAM2 PubMed Links

Gene Details

Gene
HEPACAM2
Gene Name
HEPACAM family member 2
There are no transcripts associated with this gene.

Gene
VPS50
Gene Name
VPS50, EARP/GARPII complex subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257998.1 218 UTR 5 NP_001244927.1
NM_017667.3 218 Silent Mutation GTC,GTG V31V NP_060137.2
NM_024553.2 218 Silent Mutation GTC,GTG V31V NP_078829.1
XM_011516395.2 218 UTR 5 XP_011514697.1
XM_011516396.2 218 Silent Mutation GTC,GTG V31V XP_011514698.1
XM_017012412.1 218 Intron XP_016867901.1

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