Product Details

SNP ID

rs2135014

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.12:122848518 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AGGGGGCTTTCACCTTCTGGTCCTA[C/T]GCCATTGGGCTGCCGCTGCCCAGCA

Phenotype

MIM: 605613

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HIP1R PubMed Links

Gene Details

Gene

HIP1R

Gene Name

huntingtin interacting protein 1 related

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303097.1	323	Silent Mutation	TAC,TAT	Y70Y	NP_001290026.1
NM_001303099.1	323	Silent Mutation	TAC,TAT	Y58Y	NP_001290028.1
NM_003959.2	323	Silent Mutation	TAC,TAT	Y70Y	NP_003950.1
XM_011538963.1	323	Silent Mutation	TAC,TAT	Y58Y	XP_011537265.1

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