Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GATCCCCAACAAGCACTACTCCGGC[C/G]TCTATGGGCTAATGAAGCTGGTGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609709 MIM: 603360 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 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300721.1 | 628 | Missense Mutation | CTC,GTC | L,V 178 | NP_001287650.1 | |
NM_001300722.1 | 628 | Missense Mutation | CTC,GTC | L,V 147 | NP_001287651.1 | |
NM_152312.4 | 628 | Missense Mutation | CTC,GTC | L,V 178 | NP_689525.3 | |
XM_005252787.2 | 628 | UTR 5 | XP_005252844.1 | |||
XM_006718140.1 | 628 | Missense Mutation | CTC,GTC | L,V 147 | XP_006718203.1 | |
XM_006718141.3 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_006718204.1 | |
XM_011519886.1 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_011518188.1 | |
XM_011519888.1 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_011518190.1 | |
XM_011519889.1 | 628 | Missense Mutation | CTC,GTC | L,V 147 | XP_011518191.1 | |
XM_011519890.1 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_011518192.1 | |
XM_011519891.1 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_011518193.1 | |
XM_011519892.2 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_011518194.1 | |
XM_011519893.1 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_011518195.1 | |
XM_017017173.1 | 628 | Missense Mutation | CTC,GTC | L,V 178 | XP_016872662.1 |
PEX16 - peroxisomal biogenesis factor 16 | ||||||
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There are no transcripts associated with this gene. |
PHF21A - PHD finger protein 21A | ||||||
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There are no transcripts associated with this gene. |