Product Details

SNP ID
rs143381183
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:110649697 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACGTGGGGGACCTGGCAGAGCCCT[A/G]GGATGTGGGGGTGGGCACAGCTTCA
Phenotype
MIM: 611227 MIM: 609863
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HVCN1 PubMed Links

Gene Details

Gene
HVCN1
Gene Name
hydrogen voltage gated channel 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040107.1 Intron NP_001035196.1
NM_001256413.1 Intron NP_001243342.1
NM_032369.3 Intron NP_115745.2
XM_005253948.2 Intron XP_005254005.1
XM_011538838.1 Intron XP_011537140.1
XM_011538839.2 Intron XP_011537141.1
XM_011538840.2 Intron XP_011537142.1
XM_011538841.2 Intron XP_011537143.1
XM_011538842.2 Intron XP_011537144.1
XM_011538844.2 Intron XP_011537146.1
XM_011538845.1 Intron XP_011537147.1
XM_011538846.2 Intron XP_011537148.1
XM_011538847.1 Intron XP_011537149.1
XM_017020026.1 Intron XP_016875515.1
XM_017020027.1 Intron XP_016875516.1
Gene
TCTN1
Gene Name
tectonic family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001082537.2 Intron NP_001076006.1
NM_001082538.2 Intron NP_001076007.1
NM_001173975.2 Intron NP_001167446.1
NM_001173976.1 Intron NP_001167447.1
NM_001319680.1 Intron NP_001306609.1
NM_001319681.1 Intron NP_001306610.1
NM_001319682.1 Intron NP_001306611.1
NM_024549.5 Intron NP_078825.2
XM_005253934.3 Intron XP_005253991.1
XM_005253935.3 Intron XP_005253992.1
XM_006719594.2 Intron XP_006719657.1
XM_006719595.2 Intron XP_006719658.1
XM_006719596.2 Intron XP_006719659.1
XM_006719597.3 Intron XP_006719660.1
XM_006719598.2 Intron XP_006719661.1
XM_006719599.2 Intron XP_006719662.1
XM_006719600.2 Intron XP_006719663.1
XM_011538733.2 Intron XP_011537035.1
XM_011538734.2 Intron XP_011537036.1
XM_011538735.1 Intron XP_011537037.1
XM_011538737.2 Intron XP_011537039.1
XM_011538738.2 Intron XP_011537040.1
XM_017019964.1 Intron XP_016875453.1
XM_017019965.1 Intron XP_016875454.1
XM_017019966.1 Intron XP_016875455.1
XM_017019967.1 Intron XP_016875456.1
XM_017019968.1 Intron XP_016875457.1
XM_017019969.1 Intron XP_016875458.1

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