Product Details

SNP ID

rs201043750

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:48029408 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAGCGCGAAGGCCAGGAGGCCC[C/T]CCGCGTTCCTCTCAGCCTCCAGCTG

Phenotype

MIM: 616591

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ZBTB7C PubMed Links

Gene Details

Gene

ZBTB7C

Gene Name

zinc finger and BTB domain containing 7C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039360.2	2425	Missense Mutation	GAG,GGG	E571G	NP_001034449.1
NM_001318841.1	2425	Missense Mutation	GAG,GGG	E571G	NP_001305770.1
XM_005258229.4	2425	Missense Mutation	GAG,GGG	E571G	XP_005258286.1
XM_011525861.2	2425	Missense Mutation	GAG,GGG	E620G	XP_011524163.1
XM_011525863.2	2425	Missense Mutation	GAG,GGG	E580G	XP_011524165.1
XM_011525864.2	2425	Missense Mutation	GAG,GGG	E580G	XP_011524166.1
XM_011525865.2	2425	Missense Mutation	GAG,GGG	E580G	XP_011524167.1
XM_011525866.2	2425	Missense Mutation	GAG,GGG	E580G	XP_011524168.1
XM_011525867.2	2425	Missense Mutation	GAG,GGG	E580G	XP_011524169.1
XM_011525869.2	2425	Missense Mutation	GAG,GGG	E579G	XP_011524171.1
XM_011525870.2	2425	Missense Mutation	GAG,GGG	E571G	XP_011524172.1
XM_011525871.2	2425	Missense Mutation	GAG,GGG	E571G	XP_011524173.1
XM_017025605.1	2425	Missense Mutation	GAG,GGG	E620G	XP_016881094.1
XM_017025606.1	2425	Missense Mutation	GAG,GGG	E580G	XP_016881095.1
XM_017025607.1	2425	Missense Mutation	GAG,GGG	E580G	XP_016881096.1
XM_017025608.1	2425	Missense Mutation	GAG,GGG	E579G	XP_016881097.1
XM_017025609.1	2425	Missense Mutation	GAG,GGG	E571G	XP_016881098.1

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