Product Details

SNP ID

rs200335001

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:40933642 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTGAAGTGATTACAGTGCCAGGT[A/G]GGTGAGCAACCAGCTGTGAACTGCG

Phenotype

MIM: 189973

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ELF1 PubMed Links

Gene Details

Gene

ELF1

Gene Name

E74 like ETS transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145353.1	2245	Missense Mutation	CCA,CTA	P524L	NP_001138825.1
NM_172373.3	2245	Missense Mutation	CCA,CTA	P548L	NP_758961.1
XM_005266276.1	2245	Missense Mutation	CCA,CTA	P548L	XP_005266333.1
XM_005266277.3	2245	Missense Mutation	CCA,CTA	P548L	XP_005266334.1
XM_011534950.1	2245	Missense Mutation	CCA,CTA	P548L	XP_011533252.1
XM_011534951.2	2245	Missense Mutation	CCA,CTA	P489L	XP_011533253.1
XM_017020409.1	2245	Missense Mutation	CCA,CTA	P548L	XP_016875898.1
XM_017020410.1	2245	Missense Mutation	CCA,CTA	P548L	XP_016875899.1
XM_017020411.1	2245	Missense Mutation	CCA,CTA	P548L	XP_016875900.1
XM_017020412.1	2245	Missense Mutation	CCA,CTA	P548L	XP_016875901.1
XM_017020413.1	2245	Missense Mutation	CCA,CTA	P548L	XP_016875902.1

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