Product Details

SNP ID

rs181901316

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:247300700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTCGTGCCGCTGGAAGGCCTTC[C/T]CACACTCACAGCACTGGAAGCTCAG

Phenotype

MIM: 613911

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ZNF496 PubMed Links

Gene Details

Gene

ZNF496

Gene Name

zinc finger protein 496

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005273328.3	3539	Missense Mutation	GAG,GGG	E564G	XP_005273385.1
XM_005273330.3	3539	Missense Mutation	GAG,GGG	E528G	XP_005273387.1
XM_006711838.2	3539	Intron			XP_006711901.1
XM_011544310.1	3539	Missense Mutation	GAG,GGG	E595G	XP_011542612.1
XM_011544312.1	3539	Missense Mutation	GAG,GGG	E559G	XP_011542614.1
XM_011544314.2	3539	Intron			XP_011542616.1
XM_011544315.2	3539	Intron			XP_011542617.1
XM_011544316.1	3539	Intron			XP_011542618.1
XM_017002586.1	3539	Missense Mutation	GAG,GGG	E626G	XP_016858075.1
XM_017002587.1	3539	Missense Mutation	GAG,GGG	E606G	XP_016858076.1
XM_017002588.1	3539	Missense Mutation	GAG,GGG	E595G	XP_016858077.1
XM_017002589.1	3539	Missense Mutation	GAG,GGG	E590G	XP_016858078.1
XM_017002590.1	3539	Missense Mutation	GAG,GGG	E559G	XP_016858079.1
XM_017002591.1	3539	Missense Mutation	GAG,GGG	E508G	XP_016858080.1
XM_017002592.1	3539	Intron			XP_016858081.1
XM_017002593.1	3539	Intron			XP_016858082.1
XM_017002594.1	3539	Missense Mutation	GAG,GGG	E331G	XP_016858083.1

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