Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAAGAGCAGCTGGTCTTGGCCGTC[A/G]CGCTGTTGTCTGGTTAGTTCCAACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609225 | ||||||||||||||||||||
Literature Links: |
WIPI2 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 |
WIPI2 - WD repeat domain, phosphoinositide interacting 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033518.1 | 332 | Missense Mutation | CAC,CGC | H,R 39 | NP_001028690.1 | |
NM_001033519.1 | 332 | Intron | NP_001028691.1 | |||
NM_001033520.1 | 332 | Intron | NP_001028692.1 | |||
NM_001278299.1 | 332 | UTR 5 | NP_001265228.1 | |||
NM_015610.3 | 332 | Missense Mutation | CAC,CGC | H,R 39 | NP_056425.1 | |
NM_016003.3 | 332 | Intron | NP_057087.2 | |||
XM_006715685.1 | 332 | Intron | XP_006715748.1 | |||
XM_017011952.1 | 332 | Intron | XP_016867441.1 |