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GCACTTGCACTAGCAGCGAACGATT[C/T]GGTAGGTGTTTATTAATAGAAATAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 613621 | ||||||||||||||||||||
Literature Links: |
NUBPL PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
NUBPL - nucleotide binding protein like | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001201573.1 | 331 | Intron | NP_001188502.1 | |||
NM_001201574.1 | 331 | Intron | NP_001188503.1 | |||
NM_025152.2 | 331 | Missense Mutation | TCG,TTG | S,L 97 | NP_079428.2 | |
XM_011537181.2 | 331 | Intron | XP_011535483.1 | |||
XM_011537182.2 | 331 | UTR 5 | XP_011535484.1 | |||
XM_011537183.2 | 331 | Missense Mutation | TCG,TTG | S,L 97 | XP_011535485.1 | |
XM_011537184.2 | 331 | Intron | XP_011535486.1 | |||
XM_017021664.1 | 331 | Missense Mutation | TCG,TTG | S,L 97 | XP_016877153.1 | |
XM_017021665.1 | 331 | Missense Mutation | TCG,TTG | S,L 97 | XP_016877154.1 | |
XM_017021666.1 | 331 | Missense Mutation | TCG,TTG | S,L 97 | XP_016877155.1 | |
XM_017021667.1 | 331 | UTR 5 | XP_016877156.1 |