Product Details

SNP ID
rs187776843
Assay Type
Functionally Tested
NCBI dbSNP Submissions
5
Location
Chr.1:36089090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCCAGAGTCTGGAGCCGGACCC[C/T]GGCACGCCCGGGAGTGAGCGGACAG
Phenotype
MIM: 610624 MIM: 120252 MIM: 608953
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ADPRHL2 PubMed Links

Gene Details

Gene
ADPRHL2
Gene Name
ADP-ribosylhydrolase like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017825.2 239 Silent Mutation CCC,CCT P62P NP_060295.1
XM_011541636.2 239 UTR 5 XP_011539938.1
Gene
COL8A2
Gene Name
collagen type VIII alpha 2
There are no transcripts associated with this gene.

Gene
TEKT2
Gene Name
tektin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014466.2 239 Intron NP_055281.2
XM_005270753.2 239 Intron XP_005270810.1
XM_011541258.2 239 Intron XP_011539560.1
XM_017001055.1 239 Intron XP_016856544.1

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