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Search Thermo Fisher Scientific
CCATTCATGGAAACCTTTGGATTCC[A/C]TCTCTCCATCTTTTCTCGGCTGAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609269 | ||||||||||||||||||||
Literature Links: |
KIAA0319 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
KIAA0319 - KIAA0319 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168374.1 | 2180 | Missense Mutation | GGG,TGG | G,W 1040 | NP_001161846.1 | |
NM_001168375.1 | 2180 | Missense Mutation | GGG,TGG | G,W 1049 | NP_001161847.1 | |
NM_001168376.1 | 2180 | Missense Mutation | GGG,TGG | G,W 1004 | NP_001161848.1 | |
NM_001168377.1 | 2180 | Missense Mutation | GGG,TGG | G,W 988 | NP_001161849.1 | |
NM_001252328.1 | 2180 | Missense Mutation | GGG,TGG | G,W 460 | NP_001239257.1 | |
NM_014809.3 | 2180 | Missense Mutation | GGG,TGG | G,W 1049 | NP_055624.2 | |
XM_011515025.2 | 2180 | Missense Mutation | GGG,TGG | G,W 1049 | XP_011513327.1 | |
XM_011515026.2 | 2180 | Missense Mutation | GGG,TGG | G,W 1004 | XP_011513328.1 | |
XM_017011541.1 | 2180 | Missense Mutation | GGG,TGG | G,W 1040 | XP_016867030.1 | |
XM_017011542.1 | 2180 | Intron | XP_016867031.1 | |||
XM_017011543.1 | 2180 | Missense Mutation | GGG,TGG | G,W 1016 | XP_016867032.1 | |
XM_017011544.1 | 2180 | Missense Mutation | GGG,TGG | G,W 1016 | XP_016867033.1 | |
XM_017011545.1 | 2180 | Missense Mutation | GGG,TGG | G,W 1004 | XP_016867034.1 | |
XM_017011546.1 | 2180 | Intron | XP_016867035.1 | |||
XM_017011547.1 | 2180 | UTR 3 | XP_016867036.1 | |||
XM_017011548.1 | 2180 | UTR 3 | XP_016867037.1 | |||
XM_017011549.1 | 2180 | UTR 3 | XP_016867038.1 | |||
XM_017011550.1 | 2180 | Intron | XP_016867039.1 | |||
XM_017011551.1 | 2180 | UTR 3 | XP_016867040.1 | |||
XM_017011552.1 | 2180 | Missense Mutation | GGG,TGG | G,W 897 | XP_016867041.1 | |
XM_017011553.1 | 2180 | Missense Mutation | GGG,TGG | G,W 897 | XP_016867042.1 |