Product Details

SNP ID
rs140409215
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:77878971 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTTAGCGCCGTGCAGGTTTGGGC[A/G]TTATATAAACTTTTACAGGCTTGCT
Phenotype
MIM: 611348 MIM: 608522
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AAMDC PubMed Links

Gene Details

Gene
AAMDC
Gene Name
adipogenesis associated Mth938 domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316957.1 2898 Intron NP_001303886.1
NM_001316958.1 2898 Intron NP_001303887.1
NM_001316960.1 2898 Intron NP_001303889.1
NM_001316961.1 2898 Intron NP_001303890.1
NM_001316962.1 2898 Intron NP_001303891.1
NM_024684.3 2898 Intron NP_078960.1
XM_011544968.2 2898 Intron XP_011543270.1
XM_011544969.2 2898 Intron XP_011543271.1
XM_017017620.1 2898 Intron XP_016873109.1
Gene
INTS4
Gene Name
integrator complex subunit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033547.3 2898 Missense Mutation ACG,ATG T957M NP_291025.3
XM_011545352.2 2898 Missense Mutation ACG,ATG T847M XP_011543654.1
XM_011545353.2 2898 Intron XP_011543655.1
XM_017018560.1 2898 Intron XP_016874049.1
Gene
RSF1
Gene Name
remodeling and spacing factor 1
There are no transcripts associated with this gene.

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