Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCGCCCGTCACTCCGTGTGCGCCT[C/T]CACCCACTGGCAGAGGCGACGGGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612865 MIM: 606378 | ||||||||||||||||||||
Literature Links: |
PIP5KL1 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 |
PIP5KL1 - phosphatidylinositol-4-phosphate 5-kinase like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135219.1 | 2261 | Missense Mutation | AAG,GAG | K,E 390 | NP_001128691.1 | |
NM_173492.1 | 2261 | Missense Mutation | AAG,GAG | K,E 187 | NP_775763.1 | |
XM_017014279.1 | 2261 | UTR 3 | XP_016869768.1 |
ST6GALNAC4 - ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 | ||||||
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There are no transcripts associated with this gene. |