Product Details

SNP ID
rs199743743
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75225781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATTTCCTAGTGACTCGGCTCTT[A/G]TACTCCAATCCCACAGTAAAACCCA
Phenotype
MIM: 606006 MIM: 170285
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GGA3 PubMed Links

Gene Details

Gene
GGA3
Gene Name
golgi associated, gamma adaptin ear containing, ARF binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172703.2 1054 Intron NP_001166174.1
NM_001172704.2 1054 Intron NP_001166175.1
NM_001291641.1 1054 Intron NP_001278570.1
NM_001291642.1 1054 Intron NP_001278571.1
NM_014001.4 1054 Intron NP_054720.1
NM_138619.3 1054 Intron NP_619525.1
XM_011524563.2 1054 Intron XP_011522865.1
XM_017024385.1 1054 Intron XP_016879874.1
XM_017024386.1 1054 Intron XP_016879875.1
XM_017024387.1 1054 Intron XP_016879876.1
XM_017024388.1 1054 Intron XP_016879877.1
XM_017024389.1 1054 Intron XP_016879878.1
XM_017024390.1 1054 Intron XP_016879879.1
XM_017024391.1 1054 Intron XP_016879880.1
XM_017024392.1 1054 Intron XP_016879881.1
Gene
NUP85
Gene Name
nucleoporin 85
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303276.1 1054 Silent Mutation TTA,TTG L267L NP_001290205.1
NM_024844.4 1054 Silent Mutation TTA,TTG L313L NP_079120.1
XM_005257690.2 1054 Silent Mutation TTA,TTG L313L XP_005257747.1
XM_005257692.3 1054 UTR 5 XP_005257749.1
XM_006722094.1 1054 Silent Mutation TTA,TTG L268L XP_006722157.1
XM_011525267.1 1054 Silent Mutation TTA,TTG L145L XP_011523569.1
XM_011525268.1 1054 Silent Mutation TTA,TTG L313L XP_011523570.1
XM_017025108.1 1054 Silent Mutation TTA,TTG L249L XP_016880597.1
XM_017025109.1 1054 Silent Mutation TTA,TTG L222L XP_016880598.1
XM_017025110.1 1054 Silent Mutation TTA,TTG L145L XP_016880599.1

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