Product Details

SNP ID
rs141466964
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:46893959 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGAACAGATCTTCCTGCTGCACC[A/G]TGCTCAGGCCCAGTGCGAAAAACGG
Phenotype
MIM: 168468
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PTH1R PubMed Links

Gene Details

Gene
PTH1R
Gene Name
parathyroid hormone 1 receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000316.2 480 Missense Mutation CAT,CGT H43R NP_000307.1
NM_001184744.1 480 Missense Mutation CAT,CGT H43R NP_001171673.1
XM_005265344.3 480 Missense Mutation CAT,CGT H12R XP_005265401.1
XM_011533967.2 480 Missense Mutation CAT,CGT H43R XP_011532269.1
XM_011533968.2 480 Missense Mutation CAT,CGT H37R XP_011532270.1
XM_017006932.1 480 Missense Mutation CAT,CGT H43R XP_016862421.1
XM_017006933.1 480 Missense Mutation CAT,CGT H43R XP_016862422.1
XM_017006934.1 480 Missense Mutation CAT,CGT H43R XP_016862423.1

View Full Product Details