Product Details

SNP ID
rs6249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:27958303 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAAAATATAGAAATTCAGCAGCA[C/A]CAAGATACATTTACAAAATAAATAC
Phenotype
MIM: 168470
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
PTHLH PubMed Links

Gene Details

Gene
PTHLH
Gene Name
parathyroid hormone like hormone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002820.2 3648 Intron NP_002811.1
NM_198964.1 3648 Intron NP_945315.1
NM_198965.1 3648 UTR 3 NP_945316.1
NM_198966.1 3648 UTR 3 NP_945317.1
XM_011520774.2 3648 UTR 3 XP_011519076.1
XM_011520775.2 3648 UTR 3 XP_011519077.1
XM_017019674.1 3648 UTR 3 XP_016875163.1
XM_017019675.1 3648 UTR 3 XP_016875164.1

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