Product Details

SNP ID
rs200723657
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:199272300 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTTGTACATCTCCTCGGAGCCTT[C/G]CTCGCTGTCGTTCTCCTCTGACTCG
Phenotype
MIM: 608148
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SATB2 PubMed Links

Gene Details

Gene
SATB2
Gene Name
SATB homeobox 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172509.1 2526 Missense Mutation CAA,GAA Q705E NP_001165980.1
NM_001172517.1 2526 Missense Mutation CAA,GAA Q705E NP_001165988.1
NM_015265.3 2526 Missense Mutation CAA,GAA Q705E NP_056080.1
XM_005246396.2 2526 Missense Mutation CAA,GAA Q647E XP_005246453.1
XM_006712372.2 2526 Missense Mutation CAA,GAA Q705E XP_006712435.1
XM_011510840.2 2526 Missense Mutation CAA,GAA Q705E XP_011509142.1
XM_017003656.1 2526 Missense Mutation CAA,GAA Q647E XP_016859145.1

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