Product Details

SNP ID
rs201522132
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:4117442 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTAACTTCTTTCCAAAAATAAGCA[C/T]CTCTGTTGCCTGAAATGAAAAGCAA
Phenotype
MIM: 608024
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C6orf201 PubMed Links

Gene Details

Gene
C6orf201
Gene Name
chromosome 6 open reading frame 201
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001085401.2 826 Intron NP_001078870.1
XM_005249112.3 826 Intron XP_005249169.1
XM_011514613.2 826 Intron XP_011512915.1
XM_017010861.1 826 Intron XP_016866350.1
Gene
ECI2
Gene Name
enoyl-CoA delta isomerase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166010.1 826 Missense Mutation ATG,GTG M269V NP_001159482.1
NM_006117.2 826 Missense Mutation ATG,GTG M269V NP_006108.2
NM_206836.2 826 Missense Mutation ATG,GTG M299V NP_996667.2
XM_006714957.1 826 Missense Mutation ATG,GTG M269V XP_006715020.1
XM_017010170.1 826 Missense Mutation ATG,GTG M239V XP_016865659.1

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