Product Details

SNP ID

rs139500830

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:247300776 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTGGGACCCTTGTCCGCGTCCT[C/T]GGATGCCGCCTGCTCTCTCTTCTCC

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	3463	Missense Mutation	AAG,GAG	K539E	XP_005273385.1
XM_005273330.3	3463	Missense Mutation	AAG,GAG	K503E	XP_005273387.1
XM_006711838.2	3463	Intron			XP_006711901.1
XM_011544310.1	3463	Missense Mutation	AAG,GAG	K570E	XP_011542612.1
XM_011544312.1	3463	Missense Mutation	AAG,GAG	K534E	XP_011542614.1
XM_011544314.2	3463	Intron			XP_011542616.1
XM_011544315.2	3463	Intron			XP_011542617.1
XM_011544316.1	3463	Intron			XP_011542618.1
XM_017002586.1	3463	Missense Mutation	AAG,GAG	K601E	XP_016858075.1
XM_017002587.1	3463	Missense Mutation	AAG,GAG	K581E	XP_016858076.1
XM_017002588.1	3463	Missense Mutation	AAG,GAG	K570E	XP_016858077.1
XM_017002589.1	3463	Missense Mutation	AAG,GAG	K565E	XP_016858078.1
XM_017002590.1	3463	Missense Mutation	AAG,GAG	K534E	XP_016858079.1
XM_017002591.1	3463	Missense Mutation	AAG,GAG	K483E	XP_016858080.1
XM_017002592.1	3463	Intron			XP_016858081.1
XM_017002593.1	3463	Intron			XP_016858082.1
XM_017002594.1	3463	Missense Mutation	AAG,GAG	K306E	XP_016858083.1

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