Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGCCCCTGGACTCTCCAGAGACCCT[A/G]TAGGTGGTTCAATGTCTGAGCCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607914 MIM: 616715 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BTBD18 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
BTBD18 - BTB domain containing 18 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145101.1 | 3080 | Missense Mutation | ACA,ATA | T,I 511 | NP_001138573.1 | |
XM_011545212.2 | 3080 | Missense Mutation | ACA,ATA | T,I 511 | XP_011543514.1 | |
XM_017018127.1 | 3080 | Missense Mutation | ACA,ATA | T,I 511 | XP_016873616.1 | |
XM_017018128.1 | 3080 | Missense Mutation | ACA,ATA | T,I 511 | XP_016873617.1 |
C11orf31 - chromosome 11 open reading frame 31 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TMX2 - thioredoxin related transmembrane protein 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TMX2-CTNND1 - TMX2-CTNND1 readthrough (NMD candidate) | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |