Product Details

SNP ID

rs201614335

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:110651365 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGATCTCAAACTTGTGGTGAAA[A/G]AACTCCAGGCGGAAGACAAATAATT

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	1101	Silent Mutation	TTC,TTT	F165F	NP_001035196.1
NM_001256413.1	1101	Silent Mutation	TTC,TTT	F145F	NP_001243342.1
NM_032369.3	1101	Silent Mutation	TTC,TTT	F165F	NP_115745.2
XM_005253948.2	1101	Silent Mutation	TTC,TTT	F165F	XP_005254005.1
XM_011538838.1	1101	Silent Mutation	TTC,TTT	F212F	XP_011537140.1
XM_011538839.2	1101	Silent Mutation	TTC,TTT	F212F	XP_011537141.1
XM_011538840.2	1101	Silent Mutation	TTC,TTT	F212F	XP_011537142.1
XM_011538841.2	1101	Silent Mutation	TTC,TTT	F212F	XP_011537143.1
XM_011538842.2	1101	Silent Mutation	TTC,TTT	F212F	XP_011537144.1
XM_011538844.2	1101	Silent Mutation	TTC,TTT	F212F	XP_011537146.1
XM_011538845.1	1101	Silent Mutation	TTC,TTT	F165F	XP_011537147.1
XM_011538846.2	1101	Silent Mutation	TTC,TTT	F165F	XP_011537148.1
XM_011538847.1	1101	Silent Mutation	TTC,TTT	F165F	XP_011537149.1
XM_017020026.1	1101	Silent Mutation	TTC,TTT	F212F	XP_016875515.1
XM_017020027.1	1101	Silent Mutation	TTC,TTT	F165F	XP_016875516.1

Gene

TCTN1

Gene Name

tectonic family member 1

There are no transcripts associated with this gene.

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