Product Details

SNP ID

rs56384521

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:109913453 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTCTCGCAGGAAATGGGAATTCT[A/G]CTTGTGTGGGTAAGTACTCCAATGA

Phenotype

MIM: 131530

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EGF PubMed Links

Gene Details

Gene

EGF

Gene Name

epidermal growth factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178130.2	571	Missense Mutation	ACT,GCT	T40A	NP_001171601.1
NM_001178131.2	571	Missense Mutation	ACT,GCT	T40A	NP_001171602.1
NM_001963.5	571	Missense Mutation	ACT,GCT	T40A	NP_001954.2
XM_005262796.2	571	Missense Mutation	ACT,GCT	T40A	XP_005262853.1
XM_011531707.1	571	UTR 5			XP_011530009.1
XM_017007845.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863334.1
XM_017007846.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863335.1
XM_017007847.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863336.1
XM_017007848.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863337.1
XM_017007849.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863338.1
XM_017007850.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863339.1
XM_017007851.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863340.1
XM_017007852.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863341.1
XM_017007853.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863342.1
XM_017007854.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863343.1
XM_017007855.1	571	Missense Mutation	ACT,GCT	T40A	XP_016863344.1

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