Product Details

SNP ID
rs115310908
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:37069081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTCCCCGCTGCTCACCGCCCTCG[A/C]GCAAGGCGCCCCAGCCCGTAATCCA
Phenotype
MIM: 616386 MIM: 609862
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KCTD17 PubMed Links

Gene Details

Gene
KCTD17
Gene Name
potassium channel tetramerization domain containing 17
There are no transcripts associated with this gene.

Gene
TMPRSS6
Gene Name
transmembrane protease, serine 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289000.1 1873 Missense Mutation CGC,CTC R702L NP_001275929.1
NM_001289001.1 1873 Missense Mutation CGC,CTC R702L NP_001275930.1
NM_153609.3 1873 Missense Mutation CGC,CTC R711L NP_705837.1
XM_011529989.2 1873 Missense Mutation CGC,CTC R558L XP_011528291.1

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