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TGCTTTTCCATCTCCCGTATCTGTT[C/T]CAGGCAAGCCGCCTGCTTCTCCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604114 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKRD63 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ANKRD63 - ankyrin repeat domain 63 | ||||||
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There are no transcripts associated with this gene. |
PLCB2 - phospholipase C beta 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284297.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1106 | NP_001271226.1 | |
NM_001284298.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1095 | NP_001271227.1 | |
NM_001284299.1 | 3640 | Intron | NP_001271228.1 | |||
NM_004573.2 | 3640 | Missense Mutation | AAA,GAA | K,E 1110 | NP_004564.2 | |
XM_011521674.2 | 3640 | Missense Mutation | AAA,GAA | K,E 1110 | XP_011519976.1 | |
XM_017022314.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1123 | XP_016877803.1 | |
XM_017022315.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1122 | XP_016877804.1 | |
XM_017022316.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1119 | XP_016877805.1 | |
XM_017022317.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1123 | XP_016877806.1 | |
XM_017022318.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1108 | XP_016877807.1 | |
XM_017022319.1 | 3640 | Missense Mutation | AAA,GAA | K,E 1123 | XP_016877808.1 |