Product Details

SNP ID
rs199690911
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:27963425 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAGCCCACTCCCAGTCACTCCAGA[C/G]TCTAACCAGGCAGAGCGAGTTCGCC
Phenotype
MIM: 168470
Polymorphism
C/G, 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_002820.2 750 Missense Mutation GAC,GAG D149E NP_002811.1
NM_198964.1 750 Missense Mutation GAC,GAG D149E NP_945315.1
NM_198965.1 750 Missense Mutation GAC,GAG D149E NP_945316.1
NM_198966.1 750 Missense Mutation GAC,GAG D149E NP_945317.1
XM_011520774.2 750 Missense Mutation GAC,GAG D149E XP_011519076.1
XM_011520775.2 750 Missense Mutation GAC,GAG D149E XP_011519077.1
XM_017019674.1 750 Missense Mutation GAC,GAG D149E XP_016875163.1
XM_017019675.1 750 Missense Mutation GAC,GAG D149E XP_016875164.1

View Full Product Details