Product Details

SNP ID
rs200856668
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:122867204 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCGGATATGGGGACACGAACTGC[A/G]AAGAGAATCCTTGCTGAGTGGGGAG
Phenotype
MIM: 605613 MIM: 610037
Polymorphism
A/G, Transition 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_024667.2 873 Missense Mutation TCG,TTG S257L NP_078943.1
XM_005253622.3 873 Missense Mutation TCG,TTG S229L XP_005253679.1
XM_006719602.3 873 Missense Mutation TCG,TTG S229L XP_006719665.1
XM_011538743.2 873 Missense Mutation TCG,TTG S316L XP_011537045.1
XM_011538745.2 873 Missense Mutation TCG,TTG S239L XP_011537047.1
XM_017019970.1 873 Intron XP_016875459.1
XM_017019971.1 873 Intron XP_016875460.1
XM_017019972.1 873 Intron XP_016875461.1

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