Product Details

SNP ID
rs75044225
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:169395004 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGACCCTAAGAAATCATATCCAA[A/T]ATTTTGATAGCAGCTGCCCACTGAA
Phenotype
MIM: 608692
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
BLZF1 PubMed Links

Gene Details

Gene
BLZF1
Gene Name
basic leucine zipper nuclear factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320972.1 1762 Intron NP_001307901.1
NM_001320973.1 1762 Intron NP_001307902.1
NM_003666.3 1762 Intron NP_003657.1
XM_005245561.4 1762 Intron XP_005245618.1
XM_011510092.2 1762 Intron XP_011508394.1
XM_017002645.1 1762 Intron XP_016858134.1
Gene
CCDC181
Gene Name
coiled-coil domain containing 181
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300968.1 1762 UTR 3 NP_001287897.1
NM_001300969.1 1762 UTR 3 NP_001287898.1
NM_021179.2 1762 UTR 3 NP_067002.1
XM_005245383.1 1762 UTR 3 XP_005245440.1
XM_011509827.2 1762 UTR 3 XP_011508129.1
XM_017001938.1 1762 UTR 3 XP_016857427.1
XM_017001939.1 1762 UTR 3 XP_016857428.1
XM_017001940.1 1762 UTR 3 XP_016857429.1

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