Product Details

SNP ID

rs114998585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:60754754 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAACTGTAACTCATAATGATGCAC[A/G]CAAAGACTGGAAACTGATACTTGCA

Phenotype

MIM: 614451

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ELOVL7 PubMed Links

Gene Details

Gene

ELOVL7

Gene Name

ELOVL fatty acid elongase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001104558.1	1283	Missense Mutation	GCG,GTG	A239V	NP_001098028.1
NM_001297617.1	1283	Missense Mutation	GCG,GTG	A226V	NP_001284546.1
NM_001297618.1	1283	Missense Mutation	GCG,GTG	A152V	NP_001284547.1
NM_024930.2	1283	Missense Mutation	GCG,GTG	A239V	NP_079206.2
XM_005248606.4	1283	Missense Mutation	GCG,GTG	A239V	XP_005248663.1
XM_005248607.3	1283	Missense Mutation	GCG,GTG	A226V	XP_005248664.1
XM_006714695.3	1283	Missense Mutation	GCG,GTG	A239V	XP_006714758.1
XM_011543651.2	1283	Missense Mutation	GCG,GTG	A239V	XP_011541953.1
XM_017009885.1	1283	Missense Mutation	GCG,GTG	A239V	XP_016865374.1
XM_017009886.1	1283	Missense Mutation	GCG,GTG	A226V	XP_016865375.1
XM_017009887.1	1283	Missense Mutation	GCG,GTG	A226V	XP_016865376.1
XM_017009888.1	1283	Intron			XP_016865377.1
XM_017009889.1	1283	Intron			XP_016865378.1

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