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TACCTACAGAAAGGACCCTTGGACC[C/T]GATCGAGACAGGCAAAGGGCTGAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612834 | ||||||||||||||||||||
Literature Links: |
PHLDB1 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 |
PHLDB1 - pleckstrin homology like domain family B member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144758.2 | 976 | Missense Mutation | CCG,CTG | P,L 26 | NP_001138230.1 | |
NM_001144759.2 | 976 | Missense Mutation | CCG,CTG | P,L 26 | NP_001138231.1 | |
NM_015157.3 | 976 | Missense Mutation | CCG,CTG | P,L 26 | NP_055972.1 | |
XM_005271468.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271525.1 | |
XM_005271469.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271526.1 | |
XM_005271470.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271527.1 | |
XM_005271471.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271528.1 | |
XM_005271472.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271529.1 | |
XM_005271473.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271530.1 | |
XM_005271474.4 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271531.1 | |
XM_005271475.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005271532.1 | |
XM_005277680.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_005277737.1 | |
XM_006718796.3 | 976 | Missense Mutation | CCG,CTG | P,L 26 | XP_006718859.1 | |
XM_006718797.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_006718860.1 | |
XM_006718798.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_006718861.1 | |
XM_006718799.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_006718862.1 | |
XM_006718800.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_006718863.1 | |
XM_006718801.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_006718864.1 | |
XM_006718802.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_006718865.1 | |
XM_006718803.3 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_006718866.1 | |
XM_011542703.2 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_011541005.1 | |
XM_011542704.2 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_011541006.1 | |
XM_011542705.2 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_011541007.1 | |
XM_011542706.2 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_011541008.1 | |
XM_011542707.2 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_011541009.1 | |
XM_011542708.2 | 976 | Missense Mutation | CCG,CTG | P,L 26 | XP_011541010.1 | |
XM_011542709.2 | 976 | Missense Mutation | CCG,CTG | P,L 26 | XP_011541011.1 | |
XM_011542710.2 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_011541012.1 | |
XM_011542711.2 | 976 | Intron | XP_011541013.1 | |||
XM_011542713.2 | 976 | Intron | XP_011541015.1 | |||
XM_011542714.2 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_011541016.1 | |
XM_011542715.2 | 976 | Intron | XP_011541017.1 | |||
XM_017017407.1 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_016872896.1 | |
XM_017017408.1 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_016872897.1 | |
XM_017017409.1 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_016872898.1 | |
XM_017017410.1 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_016872899.1 | |
XM_017017411.1 | 976 | Missense Mutation | CCG,CTG | P,L 72 | XP_016872900.1 |