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GCAGCGCTTCTCATGCCAGAGGTGG[A/T]AGAGTCCTCGCACAGGCGTCCGTAC
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616615 MIM: 614968 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CSGALNACT1 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)
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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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CSGALNACT1 - chondroitin sulfate N-acetylgalactosaminyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130518.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | NP_001123990.1 | |
NM_018371.4 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | NP_060841.5 | |
XM_006716358.2 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_006716421.1 | |
XM_006716359.2 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_006716422.1 | |
XM_006716360.2 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_006716423.1 | |
XM_006716361.2 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_006716424.1 | |
XM_006716362.2 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_006716425.1 | |
XM_006716363.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_006716426.1 | |
XM_006716364.3 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_006716427.1 | |
XM_011544578.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_011542880.1 | |
XM_011544579.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_011542881.1 | |
XM_011544580.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_011542882.1 | |
XM_011544582.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_011542884.1 | |
XM_011544583.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_011542885.1 | |
XM_011544584.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_011542886.1 | |
XM_011544585.2 | 2732 | Missense Mutation | TAC,TTC | Y,F 225 | XP_011542887.1 | |
XM_017013623.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869112.1 | |
XM_017013624.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869113.1 | |
XM_017013625.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869114.1 | |
XM_017013626.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869115.1 | |
XM_017013627.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869116.1 | |
XM_017013628.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869117.1 | |
XM_017013629.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869118.1 | |
XM_017013630.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869119.1 | |
XM_017013631.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869120.1 | |
XM_017013632.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869121.1 | |
XM_017013633.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869122.1 | |
XM_017013634.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869123.1 | |
XM_017013635.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869124.1 | |
XM_017013636.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869125.1 | |
XM_017013637.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869126.1 | |
XM_017013638.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 473 | XP_016869127.1 | |
XM_017013639.1 | 2732 | Missense Mutation | TAC,TTC | Y,F 225 | XP_016869128.1 |
SH2D4A - SH2 domain containing 4A | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |