Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AATTGGTATCATTTCCTAGTGACTC[A/G]GCTCTTGTACTCCAATCCCACAGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606006 MIM: 170285 | ||||||||||||||||||||
Literature Links: |
GGA3 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 |
GGA3 - golgi associated, gamma adaptin ear containing, ARF binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001172703.2 | 1047 | Intron | NP_001166174.1 | |||
NM_001172704.2 | 1047 | Intron | NP_001166175.1 | |||
NM_001291641.1 | 1047 | Intron | NP_001278570.1 | |||
NM_001291642.1 | 1047 | Intron | NP_001278571.1 | |||
NM_014001.4 | 1047 | Intron | NP_054720.1 | |||
NM_138619.3 | 1047 | Intron | NP_619525.1 | |||
XM_011524563.2 | 1047 | Intron | XP_011522865.1 | |||
XM_017024385.1 | 1047 | Intron | XP_016879874.1 | |||
XM_017024386.1 | 1047 | Intron | XP_016879875.1 | |||
XM_017024387.1 | 1047 | Intron | XP_016879876.1 | |||
XM_017024388.1 | 1047 | Intron | XP_016879877.1 | |||
XM_017024389.1 | 1047 | Intron | XP_016879878.1 | |||
XM_017024390.1 | 1047 | Intron | XP_016879879.1 | |||
XM_017024391.1 | 1047 | Intron | XP_016879880.1 | |||
XM_017024392.1 | 1047 | Intron | XP_016879881.1 |
NUP85 - nucleoporin 85 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303276.1 | 1047 | Missense Mutation | CAG,CGG | Q,R 265 | NP_001290205.1 | |
NM_024844.4 | 1047 | Missense Mutation | CAG,CGG | Q,R 311 | NP_079120.1 | |
XM_005257690.2 | 1047 | Missense Mutation | CAG,CGG | Q,R 311 | XP_005257747.1 | |
XM_005257692.3 | 1047 | UTR 5 | XP_005257749.1 | |||
XM_006722094.1 | 1047 | Missense Mutation | CAG,CGG | Q,R 266 | XP_006722157.1 | |
XM_011525267.1 | 1047 | Missense Mutation | CAG,CGG | Q,R 143 | XP_011523569.1 | |
XM_011525268.1 | 1047 | Missense Mutation | CAG,CGG | Q,R 311 | XP_011523570.1 | |
XM_017025108.1 | 1047 | Missense Mutation | CAG,CGG | Q,R 247 | XP_016880597.1 | |
XM_017025109.1 | 1047 | Missense Mutation | CAG,CGG | Q,R 220 | XP_016880598.1 | |
XM_017025110.1 | 1047 | Missense Mutation | CAG,CGG | Q,R 143 | XP_016880599.1 |