Product Details

SNP ID
rs13981
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:127288950 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAATACTTTTGACCTCTTGTGAT[A/G]AGTCAGAACTAGAACTTAATTCTTT
Phenotype
MIM: 612136 MIM: 612137
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ECHDC1 PubMed Links

Gene Details

Gene
ECHDC1
Gene Name
ethylmalonyl-CoA decarboxylase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002030.1 2017 UTR 3 NP_001002030.1
NM_001105544.1 2017 UTR 3 NP_001099014.1
NM_001105545.1 2017 UTR 3 NP_001099015.1
NM_001139510.1 2017 UTR 3 NP_001132982.1
NM_018479.3 2017 UTR 3 NP_060949.2
XM_005267047.2 2017 UTR 3 XP_005267104.1
XM_005267048.1 2017 UTR 3 XP_005267105.1
XM_005267049.2 2017 UTR 3 XP_005267106.1
XM_005267050.2 2017 UTR 3 XP_005267107.1
XM_011535942.2 2017 UTR 3 XP_011534244.1
XM_011535943.2 2017 Intron XP_011534245.1
XM_017011056.1 2017 UTR 3 XP_016866545.1
Gene
RNF146
Gene Name
ring finger protein 146
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242844.1 2017 Intron NP_001229773.1
NM_001242845.1 2017 Intron NP_001229774.1
NM_001242846.1 2017 Intron NP_001229775.1
NM_001242847.1 2017 Intron NP_001229776.1
NM_001242848.1 2017 Intron NP_001229777.1
NM_001242849.1 2017 Intron NP_001229778.1
NM_001242850.1 2017 Intron NP_001229779.1
NM_001242851.1 2017 Intron NP_001229780.1
NM_001242852.1 2017 Intron NP_001229781.1
NM_030963.3 2017 Intron NP_112225.2
XM_006715571.3 2017 UTR 3 XP_006715634.1
XM_011536161.2 2017 UTR 3 XP_011534463.1
XM_011536162.2 2017 UTR 3 XP_011534464.1
XM_011536163.2 2017 UTR 3 XP_011534465.1
XM_011536164.2 2017 UTR 3 XP_011534466.1
XM_017011336.1 2017 UTR 3 XP_016866825.1
XM_017011337.1 2017 UTR 3 XP_016866826.1
XM_017011338.1 2017 UTR 3 XP_016866827.1
XM_017011339.1 2017 UTR 3 XP_016866828.1
XM_017011340.1 2017 UTR 3 XP_016866829.1
XM_017011341.1 2017 UTR 3 XP_016866830.1
XM_017011342.1 2017 UTR 3 XP_016866831.1
XM_017011343.1 2017 UTR 3 XP_016866832.1

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