Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCCCACGGCCGCCGCCCCCATCAT[C/T]AGCTCGGTCCAGAAGCTGGTTCTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 615358 MIM: 609390 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AK9 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
|
AK9 - adenylate kinase 9 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145128.2 | 242 | Intron | NP_001138600.2 | |||
NM_145025.4 | 242 | Intron | NP_659462.1 | |||
XM_006715376.3 | 242 | Intron | XP_006715439.2 | |||
XM_011535550.2 | 242 | Intron | XP_011533852.1 | |||
XM_011535552.2 | 242 | Intron | XP_011533854.1 | |||
XM_011535553.2 | 242 | Intron | XP_011533855.1 | |||
XM_011535554.2 | 242 | Intron | XP_011533856.1 | |||
XM_011535555.2 | 242 | Intron | XP_011533857.1 | |||
XM_011535556.2 | 242 | Intron | XP_011533858.1 | |||
XM_011535558.1 | 242 | Intron | XP_011533860.1 | |||
XM_011535559.2 | 242 | Intron | XP_011533861.1 | |||
XM_017010384.1 | 242 | Intron | XP_016865873.1 | |||
XM_017010385.1 | 242 | Intron | XP_016865874.1 | |||
XM_017010386.1 | 242 | Intron | XP_016865875.1 | |||
XM_017010387.1 | 242 | Intron | XP_016865876.1 | |||
XM_017010388.1 | 242 | Intron | XP_016865877.1 | |||
XM_017010389.1 | 242 | Intron | XP_016865878.1 |
FIG4 - FIG4 phosphoinositide 5-phosphatase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014845.5 | 242 | Silent Mutation | ATC,ATT | I,I 9 | NP_055660.1 | |
XM_011536281.2 | 242 | Intron | XP_011534583.1 | |||
XM_017011591.1 | 242 | Missense Mutation | ATC,ATT | I,I 9 | XP_016867080.1 | |
XM_017011592.1 | 242 | UTR 5 | XP_016867081.1 | |||
XM_017011593.1 | 242 | UTR 5 | XP_016867082.1 |