Product Details

SNP ID
rs139843258
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:122867314 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTCATGGCCGCAGTAAACGGGGT[C/G]GCTAAGCGTCCCGCAGGCACCGGGG
Phenotype
MIM: 605613 MIM: 610037
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HIP1R PubMed Links

Gene Details

Gene
HIP1R
Gene Name
huntingtin interacting protein 1 related
There are no transcripts associated with this gene.

Gene
VPS37B
Gene Name
VPS37B, ESCRT-I subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024667.2 763 Silent Mutation GCC,GCG A220A NP_078943.1
XM_005253622.3 763 Silent Mutation GCC,GCG A192A XP_005253679.1
XM_006719602.3 763 Silent Mutation GCC,GCG A192A XP_006719665.1
XM_011538743.2 763 Silent Mutation GCC,GCG A279A XP_011537045.1
XM_011538745.2 763 Silent Mutation GCC,GCG A202A XP_011537047.1
XM_017019970.1 763 Intron XP_016875459.1
XM_017019971.1 763 Intron XP_016875460.1
XM_017019972.1 763 Intron XP_016875461.1

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