Product Details

SNP ID
rs139139263
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:51448998 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCCCAATCTTTATAGAATGTCAA[A/G]AATTCTGTTAGGGATGTTAAAAGCA
Phenotype
MIM: 612186
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DMXL2 PubMed Links

Gene Details

Gene
DMXL2
Gene Name
Dmx like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174116.1 9448 Missense Mutation CTT,TTT L3034F NP_001167587.1
NM_001174117.1 9448 Missense Mutation CTT,TTT L2397F NP_001167588.1
NM_015263.3 9448 Missense Mutation CTT,TTT L3033F NP_056078.2
XM_005254255.1 9448 Missense Mutation CTT,TTT L3055F XP_005254312.1
XM_005254256.1 9448 Missense Mutation CTT,TTT L3054F XP_005254313.1
XM_011521402.2 9448 Intron XP_011519704.1
XM_017022034.1 9448 Missense Mutation CTT,TTT L3037F XP_016877523.1

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