Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGGTTAAGCTCATTCTGTACCATT[A/G]GACGCATTCCTTCAGCTCTCAAAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606598 | ||||||||||||||||||||
Literature Links: |
GDAP1 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 |
GDAP1 - ganglioside induced differentiation associated protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040875.2 | 1303 | Intron | NP_001035808.1 | |||
NM_018972.2 | 1303 | Nonsense Mutation | TAG,TGG | *,W 31 | NP_061845.2 | |
XM_011517551.2 | 1303 | Nonsense Mutation | TAG,TGG | *,W 187 | XP_011515853.1 | |
XM_011517552.2 | 1303 | UTR 5 | XP_011515854.1 | |||
XM_017013585.1 | 1303 | Nonsense Mutation | TAG,TGG | *,W 187 | XP_016869074.1 | |
XM_017013586.1 | 1303 | Nonsense Mutation | TAG,TGG | *,W 187 | XP_016869075.1 |