Product Details

SNP ID
rs201785568
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:75539327 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATCCTTGGAGTCAGCTTACCTTC[C/T]TCCCAGCCCTCAGCAACACCAGCAA
Phenotype
MIM: 601767
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HIP1 PubMed Links

Gene Details

Gene
HIP1
Gene Name
huntingtin interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243198.2 3115 Silent Mutation GAA,GAG E968E NP_001230127.1
NM_005338.6 3115 Silent Mutation GAA,GAG E1019E NP_005329.3
XM_005250304.2 3115 Silent Mutation GAA,GAG E990E XP_005250361.1
XM_005250305.2 3115 Silent Mutation GAA,GAG E985E XP_005250362.1
XM_011516116.2 3115 Silent Mutation GAA,GAG E1019E XP_011514418.1
XM_017012099.1 3115 Silent Mutation GAA,GAG E1005E XP_016867588.1

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