Product Details

SNP ID
rs519248
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:150373226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCCCTTTGGCAGTCCCACATAT[A/C]TCTTTTATCCCCACCTTCCCAAACA
Phenotype
MIM: 300120
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MAMLD1 PubMed Links

Gene Details

Gene
MAMLD1
Gene Name
mastermind like domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177465.2 Intron NP_001170936.1
NM_001177466.2 Intron NP_001170937.1
NM_005491.4 Intron NP_005482.2
XM_006724802.3 Intron XP_006724865.1
XM_006724803.3 Intron XP_006724866.1
XM_011531092.2 Intron XP_011529394.1
XM_011531093.2 Intron XP_011529395.1
XM_011531095.2 Intron XP_011529397.1
XM_017029188.1 Intron XP_016884677.1
XM_017029189.1 Intron XP_016884678.1

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