Product Details

SNP ID

rs147139055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:4117329 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAACATTTGGGGGAAGCTTTGCAAA[C/T]GCCTTCAGCCTGGTCCAGACTTCTT

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	939	Intron			NP_001078870.1
XM_005249112.3	939	Intron			XP_005249169.1
XM_011514613.2	939	Intron			XP_011512915.1
XM_017010861.1	939	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	939	Silent Mutation	GCA,GCG	A306A	NP_001159482.1
NM_006117.2	939	Silent Mutation	GCA,GCG	A306A	NP_006108.2
NM_206836.2	939	Silent Mutation	GCA,GCG	A336A	NP_996667.2
XM_006714957.1	939	Silent Mutation	GCA,GCG	A306A	XP_006715020.1
XM_017010170.1	939	Silent Mutation	GCA,GCG	A276A	XP_016865659.1

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