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CTGTTTTACCTTCTCCAGGGAGCTG[A/T]GCATCTCCTTCTGCCGGGCCAGGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609709 MIM: 608325 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LARGE2 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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LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 | ||||||
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There are no transcripts associated with this gene. |
PHF21A - PHD finger protein 21A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001101802.1 | 2358 | Missense Mutation | CAC,CTC | H,L 612 | NP_001095272.1 | |
NM_016621.3 | 2358 | Missense Mutation | CAC,CTC | H,L 566 | NP_057705.3 | |
XM_005252965.4 | 2358 | Missense Mutation | CAC,CTC | H,L 613 | XP_005253022.1 | |
XM_011520157.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518459.1 | |
XM_011520158.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518460.1 | |
XM_011520160.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518462.1 | |
XM_011520161.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518463.1 | |
XM_011520162.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518464.1 | |
XM_011520164.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518466.1 | |
XM_011520165.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518467.1 | |
XM_011520166.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518468.1 | |
XM_011520167.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518469.1 | |
XM_011520168.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518470.1 | |
XM_011520169.2 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_011518471.1 | |
XM_011520173.2 | 2358 | Missense Mutation | CAC,CTC | H,L 613 | XP_011518475.1 | |
XM_011520174.2 | 2358 | Missense Mutation | CAC,CTC | H,L 613 | XP_011518476.1 | |
XM_011520175.2 | 2358 | Missense Mutation | CAC,CTC | H,L 612 | XP_011518477.1 | |
XM_011520179.2 | 2358 | Missense Mutation | CAC,CTC | H,L 566 | XP_011518481.1 | |
XM_017017885.1 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_016873374.1 | |
XM_017017886.1 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_016873375.1 | |
XM_017017887.1 | 2358 | Missense Mutation | CAC,CTC | H,L 620 | XP_016873376.1 | |
XM_017017888.1 | 2358 | Missense Mutation | CAC,CTC | H,L 619 | XP_016873377.1 | |
XM_017017889.1 | 2358 | Missense Mutation | CAC,CTC | H,L 619 | XP_016873378.1 | |
XM_017017890.1 | 2358 | Missense Mutation | CAC,CTC | H,L 618 | XP_016873379.1 | |
XM_017017891.1 | 2358 | Missense Mutation | CAC,CTC | H,L 612 | XP_016873380.1 | |
XM_017017892.1 | 2358 | Missense Mutation | CAC,CTC | H,L 612 | XP_016873381.1 | |
XM_017017893.1 | 2358 | Silent Mutation | GCA,GCT | A,A 632 | XP_016873382.1 | |
XM_017017894.1 | 2358 | Missense Mutation | CAC,CTC | H,L 573 | XP_016873383.1 | |
XM_017017895.1 | 2358 | Missense Mutation | CAC,CTC | H,L 572 | XP_016873384.1 | |
XM_017017896.1 | 2358 | Missense Mutation | CAC,CTC | H,L 572 | XP_016873385.1 | |
XM_017017897.1 | 2358 | Missense Mutation | CAC,CTC | H,L 568 | XP_016873386.1 | |
XM_017017898.1 | 2358 | Missense Mutation | CAC,CTC | H,L 568 | XP_016873387.1 | |
XM_017017899.1 | 2358 | Missense Mutation | CAC,CTC | H,L 568 | XP_016873388.1 | |
XM_017017900.1 | 2358 | Missense Mutation | CAC,CTC | H,L 568 | XP_016873389.1 | |
XM_017017901.1 | 2358 | Missense Mutation | CAC,CTC | H,L 568 | XP_016873390.1 | |
XM_017017902.1 | 2358 | Missense Mutation | CAC,CTC | H,L 565 | XP_016873391.1 | |
XM_017017903.1 | 2358 | Missense Mutation | CAC,CTC | H,L 565 | XP_016873392.1 | |
XM_017017904.1 | 2358 | Intron | XP_016873393.1 | |||
XM_017017905.1 | 2358 | Missense Mutation | CAC,CTC | H,L 536 | XP_016873394.1 | |
XM_017017906.1 | 2358 | Silent Mutation | GCA,GCT | A,A 577 | XP_016873395.1 | |
XM_017017907.1 | 2358 | Missense Mutation | CAC,CTC | H,L 529 | XP_016873396.1 | |
XM_017017908.1 | 2358 | Missense Mutation | CAC,CTC | H,L 485 | XP_016873397.1 |