Product Details

SNP ID
rs202186650
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:235175202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTACACATCTGAAAACTCCATT[G/T]GTAAACTTTGGGTAATCGATTACTG
Phenotype
MIM: 609696
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ARID4B PubMed Links

Gene Details

Gene
ARID4B
Gene Name
AT-rich interaction domain 4B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206794.1 3805 Missense Mutation AAA,CAA K1216Q NP_001193723.1
NM_016374.5 3805 Missense Mutation AAA,CAA K1216Q NP_057458.4
NM_031371.3 3805 Missense Mutation AAA,CAA K1130Q NP_112739.2
XM_006711781.2 3805 Missense Mutation AAA,CAA K1180Q XP_006711844.1
XM_011544212.2 3805 Missense Mutation AAA,CAA K1216Q XP_011542514.1
XM_017001468.1 3805 Missense Mutation AAA,CAA K1218Q XP_016856957.1
XM_017001469.1 3805 Missense Mutation AAA,CAA K1182Q XP_016856958.1
XM_017001470.1 3805 Missense Mutation AAA,CAA K1132Q XP_016856959.1
XM_017001471.1 3805 Intron XP_016856960.1
XM_017001472.1 3805 Missense Mutation AAA,CAA K923Q XP_016856961.1

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