Product Details

SNP ID
rs200811493
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:169395099 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTTTGGCTTCTGACATATATAGG[C/T]GGTGCTGTAACTGTTTAGAACGCTT
Phenotype
MIM: 608692
Polymorphism
C/T, Transition 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 1667 Intron NP_001307901.1
NM_001320973.1 1667 Intron NP_001307902.1
NM_003666.3 1667 Intron NP_003657.1
XM_005245561.4 1667 Intron XP_005245618.1
XM_011510092.2 1667 Intron XP_011508394.1
XM_017002645.1 1667 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 1667 Missense Mutation CAC,CGC H492R NP_001287897.1
NM_001300969.1 1667 Missense Mutation CAC,CGC H493R NP_001287898.1
NM_021179.2 1667 Missense Mutation CAC,CGC H492R NP_067002.1
XM_005245383.1 1667 Missense Mutation CAC,CGC H493R XP_005245440.1
XM_011509827.2 1667 Missense Mutation CAC,CGC H493R XP_011508129.1
XM_017001938.1 1667 Missense Mutation CAC,CGC H493R XP_016857427.1
XM_017001939.1 1667 Missense Mutation CAC,CGC H493R XP_016857428.1
XM_017001940.1 1667 Missense Mutation CAC,CGC H492R XP_016857429.1

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