Product Details

SNP ID
rs138306277
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7890649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTGGGGGCAGTGAATATGGAACC[A/G]GACCGGGTCGGAAACGAAGAAGGAA
Phenotype
MIM: 602120
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CHD3 PubMed Links

Gene Details

Gene
CHD3
Gene Name
chromodomain helicase DNA binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005271.2 512 Missense Mutation AGA,GGA R157G NP_001005271.2
NM_001005273.2 512 Missense Mutation AGA,GGA R98G NP_001005273.1
NM_005852.3 512 Missense Mutation AGA,GGA R98G NP_005843.2
XM_005256427.4 512 Missense Mutation AGA,GGA R157G XP_005256484.1
XM_005256428.4 512 Missense Mutation AGA,GGA R157G XP_005256485.1
XM_005256429.4 512 Missense Mutation AGA,GGA R157G XP_005256486.1
XM_005256431.4 512 Missense Mutation AGA,GGA R157G XP_005256488.1
XM_006721423.3 512 Missense Mutation AGA,GGA R157G XP_006721486.1
XM_006721424.3 512 Missense Mutation AGA,GGA R157G XP_006721487.1
XM_006721428.3 512 Missense Mutation AGA,GGA R157G XP_006721491.1
XM_017024061.1 512 Missense Mutation AGA,GGA R157G XP_016879550.1
XM_017024062.1 512 Missense Mutation AGA,GGA R157G XP_016879551.1
XM_017024063.1 512 Missense Mutation AGA,GGA R98G XP_016879552.1
XM_017024064.1 512 Missense Mutation AGA,GGA R157G XP_016879553.1
XM_017024065.1 512 Missense Mutation AGA,GGA R157G XP_016879554.1
XM_017024066.1 512 Missense Mutation AGA,GGA R78G XP_016879555.1
XM_017024067.1 512 Missense Mutation AGA,GGA R87G XP_016879556.1
XM_017024068.1 512 Missense Mutation AGA,GGA R78G XP_016879557.1
XM_017024069.1 512 UTR 5 XP_016879558.1
XM_017024070.1 512 Missense Mutation AGA,GGA R157G XP_016879559.1
Gene
NAA38
Gene Name
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
There are no transcripts associated with this gene.

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