Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCCCGGAGGCTTTCCTTGCCCAGC[A/G]CCCGGGCCACTTCTTCACATTGGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 604313 MIM: 147557 | ||||||||||||||||||||
Literature Links: |
GALK1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
GALK1 - galactokinase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000154.1 | 809 | Missense Mutation | GCG,GTG | A,V 249 | NP_000145.1 |
ITGB4 - integrin subunit beta 4 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |