Product Details

SNP ID

rs149958725

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:52927463 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCGTGGTGGGGGTTGGCATGACC[A/C]AGGTAAACCGAGCAGCGGCCCTGCT

Phenotype

MIM: 184755

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ECHDC2 PubMed Links

Gene Details

Gene

ECHDC2

Gene Name

enoyl-CoA hydratase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198961.1	235	Intron			NP_001185890.1
NM_001198962.1	235	Intron			NP_001185891.1
NM_001319958.1	235	Intron			NP_001306887.1
NM_018281.3	235	Intron			NP_060751.2
XM_011541709.2	235	Intron			XP_011540011.1
XM_011541710.2	235	Intron			XP_011540012.1
XM_011541711.2	235	Intron			XP_011540013.1
XM_011541712.2	235	Intron			XP_011540014.1
XM_011541713.2	235	Intron			XP_011540015.1
XM_011541715.2	235	Intron			XP_011540017.1
XM_011541719.2	235	Intron			XP_011540021.1
XM_011541720.2	235	Intron			XP_011540022.1
XM_011541721.2	235	Intron			XP_011540023.1
XM_011541722.2	235	Intron			XP_011540024.1
XM_011541723.2	235	Intron			XP_011540025.1
XM_011541724.2	235	Intron			XP_011540026.1
XM_011541725.2	235	Intron			XP_011540027.1
XM_011541726.2	235	Intron			XP_011540028.1
XM_011541727.2	235	Intron			XP_011540029.1
XM_017001638.1	235	Intron			XP_016857127.1
XM_017001639.1	235	Intron			XP_016857128.1
XM_017001640.1	235	Intron			XP_016857129.1
XM_017001641.1	235	Intron			XP_016857130.1
XM_017001642.1	235	Intron			XP_016857131.1

Gene

MIR1273F

Gene Name

microRNA 1273f

There are no transcripts associated with this gene.

Gene

MIR5095

Gene Name

microRNA 5095

There are no transcripts associated with this gene.

Gene

SCP2

Gene Name

sterol carrier protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007098.2	235	Missense Mutation	AAG,CAG	K23Q	NP_001007099.1
NM_001007099.2	235	Intron			NP_001007100.1
NM_001007100.2	235	Intron			NP_001007101.1
NM_001007250.2	235	Intron			NP_001007251.1
NM_001193599.1	235	Missense Mutation	AAG,CAG	K23Q	NP_001180528.1
NM_001193600.1	235	Missense Mutation	AAG,CAG	K23Q	NP_001180529.1
NM_001193617.1	235	UTR 5			NP_001180546.1
NM_002979.4	235	Missense Mutation	AAG,CAG	K23Q	NP_002970.2
XM_005271103.4	235	Missense Mutation	AAG,CAG	K23Q	XP_005271160.1
XM_011541935.2	235	Missense Mutation	AAG,CAG	K23Q	XP_011540237.1
XM_017002045.1	235	Missense Mutation	AAG,CAG	K23Q	XP_016857534.1
XM_017002046.1	235	Intron			XP_016857535.1

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