Product Details

SNP ID
rs1001284
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:46892470 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGCCACTCGAGAATGCGCTGCCA[C/G]TCGCGCGCGCACGCACAGGGACGCG
Phenotype
MIM: 168468
Polymorphism
C/G, Transversion 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 1730 Intron NP_000307.1
NM_001184744.1 1730 Intron NP_001171673.1
XM_005265344.3 1730 UTR 5 XP_005265401.1
XM_011533967.2 1730 Intron XP_011532269.1
XM_011533968.2 1730 Intron XP_011532270.1
XM_017006932.1 1730 Intron XP_016862421.1
XM_017006933.1 1730 Intron XP_016862422.1
XM_017006934.1 1730 Intron XP_016862423.1

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