Product Details

SNP ID
rs201311804
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:154234562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATATTTGAACTTCATCTTCTGCTT[G/T]AAGTTCATGGCATGTACCACTGATG
Phenotype
MIM: 612486
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DCHS2 PubMed Links

Gene Details

Gene
DCHS2
Gene Name
dachsous cadherin-related 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142552.1 6019 Intron NP_001136024.1
NM_017639.3 6019 Missense Mutation AAA,CAA K2909Q NP_060109.2
XM_011532045.1 6019 Missense Mutation AAA,CAA K3364Q XP_011530347.1
XM_011532046.2 6019 Missense Mutation AAA,CAA K2587Q XP_011530348.1
XM_011532049.2 6019 Missense Mutation AAA,CAA K1699Q XP_011530351.1
XM_017008320.1 6019 Intron XP_016863809.1

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