Product Details

SNP ID

rs201094113

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:209775923 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGTGTTGGTAGAAAACAAGCTGC[A/G]TGGCCTCTCTCCAGCTCTCTCTGAA

Phenotype

MIM: 612636

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

UNC80 PubMed Links

Gene Details

Gene

UNC80

Gene Name

unc-80 homolog, NALCN activator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032504.1	256	Missense Mutation	CAT,CGT	H59R	NP_115893.1
NM_182587.3	256	Missense Mutation	CAT,CGT	H59R	NP_872393.3
XM_005246476.1	256	Missense Mutation	CAT,CGT	H59R	XP_005246533.1
XM_011511004.1	256	Missense Mutation	CAT,CGT	H59R	XP_011509306.1
XM_011511005.1	256	Missense Mutation	CAT,CGT	H59R	XP_011509307.1
XM_011511006.1	256	Missense Mutation	CAT,CGT	H59R	XP_011509308.1
XM_011511007.1	256	Missense Mutation	CAT,CGT	H59R	XP_011509309.1
XM_011511008.1	256	Missense Mutation	CAT,CGT	H59R	XP_011509310.1
XM_011511010.2	256	Missense Mutation	CAT,CGT	H59R	XP_011509312.1
XM_011511012.1	256	Missense Mutation	CAT,CGT	H59R	XP_011509314.1
XM_017003884.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859373.1
XM_017003885.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859374.1
XM_017003886.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859375.1
XM_017003887.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859376.1
XM_017003888.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859377.1
XM_017003889.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859378.1
XM_017003890.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859379.1
XM_017003891.1	256	UTR 5			XP_016859380.1
XM_017003892.1	256	Intron			XP_016859381.1
XM_017003893.1	256	Missense Mutation	CAT,CGT	H59R	XP_016859382.1
XM_017003894.1	256	Intron			XP_016859383.1

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