Product Details

SNP ID
rs139642660
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133363564 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGCCACCACCAGGAGCAAGCCCC[C/T]AATCACCGACATGGTCTGGAAGAAG
Phenotype
MIM: 185620 MIM: 185630 MIM: 185660
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SURF1 PubMed Links

Gene Details

Gene
SURF1
Gene Name
surfeit 1
There are no transcripts associated with this gene.

Gene
SURF2
Gene Name
surfeit 2
There are no transcripts associated with this gene.

Gene
SURF4
Gene Name
surfeit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001280788.1 936 Missense Mutation AGG,GGG R232G NP_001267717.1
NM_001280789.1 936 Intron NP_001267718.1
NM_001280790.1 936 Missense Mutation AGG,GGG R204G NP_001267719.1
NM_001280791.1 936 Missense Mutation AGG,GGG R204G NP_001267720.1
NM_001280792.1 936 UTR 3 NP_001267721.1
NM_001280793.1 936 Missense Mutation AGG,GGG R130G NP_001267722.1
NM_033161.3 936 Missense Mutation AGG,GGG R247G NP_149351.1
XM_011518943.1 936 Missense Mutation AGG,GGG R238G XP_011517245.1
XM_011518944.2 936 Missense Mutation AGG,GGG R238G XP_011517246.1
XM_011518945.2 936 Missense Mutation AGG,GGG R184G XP_011517247.1
XM_017015062.1 936 UTR 3 XP_016870551.1

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