Product Details

SNP ID
rs138935935
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:18275276 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGTTATATTCTGGCATCTGCTGT[C/T]GGCATCTCTCATTTGATAGAAGAGG
Phenotype
MIM: 607247 MIM: 606635
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHODL PubMed Links

Gene Details

Gene
CHODL
Gene Name
chondrolectin
There are no transcripts associated with this gene.

Gene
TMPRSS15
Gene Name
transmembrane protease, serine 15
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002772.2 3020 Missense Mutation CAA,CGA Q942R NP_002763.2
XM_011529654.1 3020 Missense Mutation CAA,CGA Q987R XP_011527956.1
XM_011529655.1 3020 Missense Mutation CAA,CGA Q987R XP_011527957.1
XM_011529656.2 3020 Missense Mutation CAA,CGA Q987R XP_011527958.1
XM_011529657.1 3020 Missense Mutation CAA,CGA Q972R XP_011527959.1
XM_011529658.1 3020 Missense Mutation CAA,CGA Q960R XP_011527960.1
XM_011529659.1 3020 Missense Mutation CAA,CGA Q957R XP_011527961.1

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