Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CACCCAGGACACAGCCAGCATGAAC[C/T]GGGCATTTCTGCAGGGCCTGCTGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605425 MIM: 604493 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GJB4 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
|
GJB4 - gap junction protein beta 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153212.2 | 665 | Missense Mutation | CGG,TGG | R,W 3 | NP_694944.1 | |
XM_011540679.2 | 665 | Missense Mutation | CGG,TGG | R,W 3 | XP_011538981.1 |
GJB5 - gap junction protein beta 5 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |