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GCTTTCTTAGTTCTTCTGTCTGTCT[G/T]TCTTTCATCTGCTCTTCGTGCTTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 608692 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BLZF1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BLZF1 - basic leucine zipper nuclear factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320972.1 | 1476 | Intron | NP_001307901.1 | |||
NM_001320973.1 | 1476 | Intron | NP_001307902.1 | |||
NM_003666.3 | 1476 | Intron | NP_003657.1 | |||
XM_005245561.4 | 1476 | Intron | XP_005245618.1 | |||
XM_011510092.2 | 1476 | Intron | XP_011508394.1 | |||
XM_017002645.1 | 1476 | Intron | XP_016858134.1 |
CCDC181 - coiled-coil domain containing 181 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300968.1 | 1476 | Missense Mutation | GAA,GAC | E,D 428 | NP_001287897.1 | |
NM_001300969.1 | 1476 | Missense Mutation | GAA,GAC | E,D 429 | NP_001287898.1 | |
NM_021179.2 | 1476 | Missense Mutation | GAA,GAC | E,D 428 | NP_067002.1 | |
XM_005245383.1 | 1476 | Missense Mutation | GAA,GAC | E,D 429 | XP_005245440.1 | |
XM_011509827.2 | 1476 | Missense Mutation | GAA,GAC | E,D 429 | XP_011508129.1 | |
XM_017001938.1 | 1476 | Missense Mutation | GAA,GAC | E,D 429 | XP_016857427.1 | |
XM_017001939.1 | 1476 | Missense Mutation | GAA,GAC | E,D 429 | XP_016857428.1 | |
XM_017001940.1 | 1476 | Missense Mutation | GAA,GAC | E,D 428 | XP_016857429.1 |