Product Details

SNP ID
rs200740396
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44757148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGGGGCCCCCGGCTTCACCACC[A/G]GGTAAGCAAGTTCCCTCACCTGGCA
Phenotype
MIM: 611196
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ZMIZ2 PubMed Links

Gene Details

Gene
ZMIZ2
Gene Name
zinc finger MIZ-type containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300959.1 1534 Missense Mutation AGG,GGG R91G NP_001287888.1
NM_031449.3 1534 Missense Mutation AGG,GGG R123G NP_113637.3
NM_174929.2 1534 Missense Mutation AGG,GGG R123G NP_777589.2
XM_005249866.2 1534 Missense Mutation AGG,GGG R123G XP_005249923.1
XM_005249867.4 1534 Missense Mutation AGG,GGG R123G XP_005249924.1
XM_005249868.4 1534 Missense Mutation AGG,GGG R123G XP_005249925.1
XM_005249869.2 1534 Missense Mutation AGG,GGG R123G XP_005249926.1
XM_005249870.2 1534 Missense Mutation AGG,GGG R123G XP_005249927.1
XM_005249871.2 1534 Missense Mutation AGG,GGG R91G XP_005249928.1
XM_005249872.2 1534 Missense Mutation AGG,GGG R123G XP_005249929.1
XM_005249873.2 1534 Missense Mutation AGG,GGG R91G XP_005249930.1
XM_011515566.1 1534 Intron XP_011513868.1
XM_017012674.1 1534 Missense Mutation AGG,GGG R123G XP_016868163.1

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