Product Details

SNP ID
rs147572611
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:161198083 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGACCGCTGGCAGGACTCTTCCGG[C/T]GTAGGATGTGAGCCCCAGGTCCCCC
Phenotype
MIM: 603876 MIM: 602985
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ADAMTS4 PubMed Links

Gene Details

Gene
ADAMTS4
Gene Name
ADAM metallopeptidase with thrombospondin type 1 motif 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320336.1 971 Missense Mutation CAC,CGC H182R NP_001307265.1
NM_005099.5 971 Missense Mutation CAC,CGC H182R NP_005090.3
Gene
NDUFS2
Gene Name
NADH:ubiquinone oxidoreductase core subunit S2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166159.1 971 Intron NP_001159631.1
NM_004550.4 971 Intron NP_004541.1
XM_005245208.2 971 Intron XP_005245265.1
XM_005245209.1 971 Intron XP_005245266.1
XM_017001357.1 971 Intron XP_016856846.1

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