Product Details

SNP ID

rs199774045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:48029661 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCGAAGAGCAGGCTGGCGGCCC[C/T]CCACGCAGCAGGCTTGCGGCCGCGT

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	2172	Missense Mutation	AGG,GGG	R487G	NP_001034449.1
NM_001318841.1	2172	Missense Mutation	AGG,GGG	R487G	NP_001305770.1
XM_005258229.4	2172	Missense Mutation	AGG,GGG	R487G	XP_005258286.1
XM_011525861.2	2172	Missense Mutation	AGG,GGG	R536G	XP_011524163.1
XM_011525863.2	2172	Missense Mutation	AGG,GGG	R496G	XP_011524165.1
XM_011525864.2	2172	Missense Mutation	AGG,GGG	R496G	XP_011524166.1
XM_011525865.2	2172	Missense Mutation	AGG,GGG	R496G	XP_011524167.1
XM_011525866.2	2172	Missense Mutation	AGG,GGG	R496G	XP_011524168.1
XM_011525867.2	2172	Missense Mutation	AGG,GGG	R496G	XP_011524169.1
XM_011525869.2	2172	Missense Mutation	AGG,GGG	R495G	XP_011524171.1
XM_011525870.2	2172	Missense Mutation	AGG,GGG	R487G	XP_011524172.1
XM_011525871.2	2172	Missense Mutation	AGG,GGG	R487G	XP_011524173.1
XM_017025605.1	2172	Missense Mutation	AGG,GGG	R536G	XP_016881094.1
XM_017025606.1	2172	Missense Mutation	AGG,GGG	R496G	XP_016881095.1
XM_017025607.1	2172	Missense Mutation	AGG,GGG	R496G	XP_016881096.1
XM_017025608.1	2172	Missense Mutation	AGG,GGG	R495G	XP_016881097.1
XM_017025609.1	2172	Missense Mutation	AGG,GGG	R487G	XP_016881098.1

View Full Product Details