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ATAGAAAGGTTTGTTGGGCTGGAAT[C/T]GGGCATTTCCCTGATGCATGAAGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 617031 MIM: 613692 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PRPF38A 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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PRPF38A - pre-mRNA processing factor 38A | ||||||
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There are no transcripts associated with this gene. |
ZCCHC11 - zinc finger CCHC-type containing 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009881.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1613 | NP_001009881.1 | |
NM_015269.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1612 | NP_056084.1 | |
XM_005270676.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1613 | XP_005270733.1 | |
XM_005270678.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1612 | XP_005270735.1 | |
XM_005270679.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1608 | XP_005270736.1 | |
XM_005270680.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1608 | XP_005270737.1 | |
XM_005270681.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1575 | XP_005270738.1 | |
XM_005270682.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1502 | XP_005270739.1 | |
XM_005270683.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1491 | XP_005270740.1 | |
XM_006710498.2 | 4401 | Missense Mutation | CAA,CGA | Q,R 1613 | XP_006710561.1 | |
XM_006710499.3 | 4401 | Missense Mutation | CAA,CGA | Q,R 1613 | XP_006710562.1 | |
XM_006710500.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1542 | XP_006710563.1 | |
XM_011541097.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1613 | XP_011539399.1 | |
XM_011541098.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1586 | XP_011539400.1 | |
XM_011541099.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1515 | XP_011539401.1 | |
XM_011541100.2 | 4401 | Intron | XP_011539402.1 | |||
XM_011541101.2 | 4401 | Intron | XP_011539403.1 | |||
XM_017000803.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1581 | XP_016856292.1 | |
XM_017000804.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1581 | XP_016856293.1 | |
XM_017000805.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1570 | XP_016856294.1 | |
XM_017000806.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1537 | XP_016856295.1 | |
XM_017000807.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1537 | XP_016856296.1 | |
XM_017000808.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1497 | XP_016856297.1 | |
XM_017000809.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1502 | XP_016856298.1 | |
XM_017000810.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1497 | XP_016856299.1 | |
XM_017000811.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1491 | XP_016856300.1 | |
XM_017000812.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1490 | XP_016856301.1 | |
XM_017000813.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1486 | XP_016856302.1 | |
XM_017000814.1 | 4401 | Missense Mutation | CAA,CGA | Q,R 1380 | XP_016856303.1 | |
XM_017000815.1 | 4401 | Intron | XP_016856304.1 | |||
XM_017000816.1 | 4401 | Intron | XP_016856305.1 | |||
XM_017000817.1 | 4401 | Intron | XP_016856306.1 | |||
XM_017000818.1 | 4401 | Intron | XP_016856307.1 |