Search Thermo Fisher Scientific
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GACAAGAAATAAAAGGGGAATTGCA[C/T]CAAAAATCCACGGATCTTCTTCAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602382 | ||||||||||||||||||||
Literature Links: |
PLD1 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 |
PLD1 - phospholipase D1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130081.2 | 3215 | Missense Mutation | ATG,GTG | M,V 1007 | NP_001123553.1 | |
NM_002662.4 | 3215 | Missense Mutation | ATG,GTG | M,V 1045 | NP_002653.1 | |
XM_005247533.2 | 3215 | Missense Mutation | ATG,GTG | M,V 1045 | XP_005247590.1 | |
XM_005247534.2 | 3215 | Missense Mutation | ATG,GTG | M,V 1007 | XP_005247591.1 | |
XM_011512897.1 | 3215 | Intron | XP_011511199.1 | |||
XM_011512898.1 | 3215 | Intron | XP_011511200.1 | |||
XM_011512899.2 | 3215 | Missense Mutation | ATG,GTG | M,V 628 | XP_011511201.1 | |
XM_017006623.1 | 3215 | Intron | XP_016862112.1 | |||
XM_017006624.1 | 3215 | Missense Mutation | ATG,GTG | M,V 628 | XP_016862113.1 |