Product Details

SNP ID
rs12007553
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:49933361 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAATGGATTCTGATGGAAGTCATTG[A/C]ATAGAGGGTAAACGAAAACAACCTT
Phenotype
MIM: 300008
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
CLCN5 PubMed Links

Gene Details

Gene
CLCN5
Gene Name
chloride voltage-gated channel 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000084.4 Intron NP_000075.1
NM_001127898.3 Intron NP_001121370.1
NM_001127899.3 Intron NP_001121371.1
NM_001272102.1 Intron NP_001259031.1
NM_001282163.1 Intron NP_001269092.1
XM_017029257.1 Intron XP_016884746.1
XM_017029258.1 Intron XP_016884747.1

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