Product Details

SNP ID

rs187049479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:127290063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTGCTTTAGCCATTCTTGTGCCT[A/C]TTCTAGAGATTTAGTTTCATCTGAA

Phenotype

MIM: 612136 MIM: 612137

Polymorphism

A/C, Transversion 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	904	Nonsense Mutation	GAG,TAG	E238*	NP_001002030.1
NM_001105544.1	904	Nonsense Mutation	GAG,TAG	E163*	NP_001099014.1
NM_001105545.1	904	UTR 3			NP_001099015.1
NM_001139510.1	904	Nonsense Mutation	GAG,TAG	E244*	NP_001132982.1
NM_018479.3	904	UTR 3			NP_060949.2
XM_005267047.2	904	Nonsense Mutation	GAG,TAG	E238*	XP_005267104.1
XM_005267048.1	904	Nonsense Mutation	GAG,TAG	E238*	XP_005267105.1
XM_005267049.2	904	UTR 3			XP_005267106.1
XM_005267050.2	904	UTR 3			XP_005267107.1
XM_011535942.2	904	Nonsense Mutation	GAG,TAG	E126*	XP_011534244.1
XM_011535943.2	904	Intron			XP_011534245.1
XM_017011056.1	904	Nonsense Mutation	GAG,TAG	E163*	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	904	Intron			NP_001229773.1
NM_001242845.1	904	Intron			NP_001229774.1
NM_001242846.1	904	Intron			NP_001229775.1
NM_001242847.1	904	Intron			NP_001229776.1
NM_001242848.1	904	Intron			NP_001229777.1
NM_001242849.1	904	Intron			NP_001229778.1
NM_001242850.1	904	Intron			NP_001229779.1
NM_001242851.1	904	Intron			NP_001229780.1
NM_001242852.1	904	Intron			NP_001229781.1
NM_030963.3	904	Intron			NP_112225.2
XM_006715571.3	904	Intron			XP_006715634.1
XM_011536161.2	904	Intron			XP_011534463.1
XM_011536162.2	904	Intron			XP_011534464.1
XM_011536163.2	904	Intron			XP_011534465.1
XM_011536164.2	904	Intron			XP_011534466.1
XM_017011336.1	904	Intron			XP_016866825.1
XM_017011337.1	904	Intron			XP_016866826.1
XM_017011338.1	904	Intron			XP_016866827.1
XM_017011339.1	904	Intron			XP_016866828.1
XM_017011340.1	904	Intron			XP_016866829.1
XM_017011341.1	904	Intron			XP_016866830.1
XM_017011342.1	904	Intron			XP_016866831.1
XM_017011343.1	904	Intron			XP_016866832.1

View Full Product Details