Product Details

SNP ID

rs200761884

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:110661208 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGTTTCCTCAACATGCCCCTGA[A/G]GTCAAGGGGGGCCCTGGGTGCGGGG

Phenotype

MIM: 611227

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	868	Missense Mutation	CTC,TTC	L88F	NP_001035196.1
NM_001256413.1	868	Missense Mutation	CTC,TTC	L68F	NP_001243342.1
NM_032369.3	868	Missense Mutation	CTC,TTC	L88F	NP_115745.2
XM_005253948.2	868	Missense Mutation	CTC,TTC	L88F	XP_005254005.1
XM_011538838.1	868	Missense Mutation	CTC,TTC	L135F	XP_011537140.1
XM_011538839.2	868	Missense Mutation	CTC,TTC	L135F	XP_011537141.1
XM_011538840.2	868	Missense Mutation	CTC,TTC	L135F	XP_011537142.1
XM_011538841.2	868	Missense Mutation	CTC,TTC	L135F	XP_011537143.1
XM_011538842.2	868	Missense Mutation	CTC,TTC	L135F	XP_011537144.1
XM_011538844.2	868	Missense Mutation	CTC,TTC	L135F	XP_011537146.1
XM_011538845.1	868	Missense Mutation	CTC,TTC	L88F	XP_011537147.1
XM_011538846.2	868	Missense Mutation	CTC,TTC	L88F	XP_011537148.1
XM_011538847.1	868	Missense Mutation	CTC,TTC	L88F	XP_011537149.1
XM_017020026.1	868	Missense Mutation	CTC,TTC	L135F	XP_016875515.1
XM_017020027.1	868	Missense Mutation	CTC,TTC	L88F	XP_016875516.1

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