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GAGTCTACAGGTTTGGAGAGGTCGA[C/T]GCCGTGGATGAGGCGAATCAGCTGT
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 |
---|---|---|
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 |
LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 | ||||||
---|---|---|---|---|---|---|
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 | 2405 | Missense Mutation | ATC,GTC | I,V 628 | NP_001095272.1 | |
NM_016621.3 | 2405 | Missense Mutation | ATC,GTC | I,V 582 | NP_057705.3 | |
XM_005252965.4 | 2405 | Missense Mutation | ATC,GTC | I,V 629 | XP_005253022.1 | |
XM_011520157.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518459.1 | |
XM_011520158.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518460.1 | |
XM_011520160.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518462.1 | |
XM_011520161.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518463.1 | |
XM_011520162.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518464.1 | |
XM_011520164.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518466.1 | |
XM_011520165.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518467.1 | |
XM_011520166.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518468.1 | |
XM_011520167.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518469.1 | |
XM_011520168.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518470.1 | |
XM_011520169.2 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_011518471.1 | |
XM_011520173.2 | 2405 | Missense Mutation | ATC,GTC | I,V 629 | XP_011518475.1 | |
XM_011520174.2 | 2405 | Missense Mutation | ATC,GTC | I,V 629 | XP_011518476.1 | |
XM_011520175.2 | 2405 | Missense Mutation | ATC,GTC | I,V 628 | XP_011518477.1 | |
XM_011520179.2 | 2405 | Missense Mutation | ATC,GTC | I,V 582 | XP_011518481.1 | |
XM_017017885.1 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_016873374.1 | |
XM_017017886.1 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_016873375.1 | |
XM_017017887.1 | 2405 | Missense Mutation | ATC,GTC | I,V 636 | XP_016873376.1 | |
XM_017017888.1 | 2405 | Missense Mutation | ATC,GTC | I,V 635 | XP_016873377.1 | |
XM_017017889.1 | 2405 | Missense Mutation | ATC,GTC | I,V 635 | XP_016873378.1 | |
XM_017017890.1 | 2405 | Missense Mutation | ATC,GTC | I,V 634 | XP_016873379.1 | |
XM_017017891.1 | 2405 | Missense Mutation | ATC,GTC | I,V 628 | XP_016873380.1 | |
XM_017017892.1 | 2405 | Missense Mutation | ATC,GTC | I,V 628 | XP_016873381.1 | |
XM_017017893.1 | 2405 | Missense Mutation | CAT,CGT | H,R 648 | XP_016873382.1 | |
XM_017017894.1 | 2405 | Missense Mutation | ATC,GTC | I,V 589 | XP_016873383.1 | |
XM_017017895.1 | 2405 | Missense Mutation | ATC,GTC | I,V 588 | XP_016873384.1 | |
XM_017017896.1 | 2405 | Missense Mutation | ATC,GTC | I,V 588 | XP_016873385.1 | |
XM_017017897.1 | 2405 | Missense Mutation | ATC,GTC | I,V 584 | XP_016873386.1 | |
XM_017017898.1 | 2405 | Missense Mutation | ATC,GTC | I,V 584 | XP_016873387.1 | |
XM_017017899.1 | 2405 | Missense Mutation | ATC,GTC | I,V 584 | XP_016873388.1 | |
XM_017017900.1 | 2405 | Missense Mutation | ATC,GTC | I,V 584 | XP_016873389.1 | |
XM_017017901.1 | 2405 | Missense Mutation | ATC,GTC | I,V 584 | XP_016873390.1 | |
XM_017017902.1 | 2405 | Missense Mutation | ATC,GTC | I,V 581 | XP_016873391.1 | |
XM_017017903.1 | 2405 | Missense Mutation | ATC,GTC | I,V 581 | XP_016873392.1 | |
XM_017017904.1 | 2405 | Intron | XP_016873393.1 | |||
XM_017017905.1 | 2405 | Missense Mutation | ATC,GTC | I,V 552 | XP_016873394.1 | |
XM_017017906.1 | 2405 | Missense Mutation | CAT,CGT | H,R 593 | XP_016873395.1 | |
XM_017017907.1 | 2405 | Missense Mutation | ATC,GTC | I,V 545 | XP_016873396.1 | |
XM_017017908.1 | 2405 | Missense Mutation | ATC,GTC | I,V 501 | XP_016873397.1 |