Product Details

SNP ID

rs201257827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:40933601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTACTTCCTGTGTAAGAGTTTTTG[C/T]TTCTTGAGTTTTGATAACTGAAGTG

Phenotype

MIM: 189973

Polymorphism

C/T, 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	2286	Missense Mutation	ACA,GCA	T538A	NP_001138825.1
NM_172373.3	2286	Missense Mutation	ACA,GCA	T562A	NP_758961.1
XM_005266276.1	2286	Missense Mutation	ACA,GCA	T562A	XP_005266333.1
XM_005266277.3	2286	Missense Mutation	ACA,GCA	T562A	XP_005266334.1
XM_011534950.1	2286	Missense Mutation	ACA,GCA	T562A	XP_011533252.1
XM_011534951.2	2286	Missense Mutation	ACA,GCA	T503A	XP_011533253.1
XM_017020409.1	2286	Missense Mutation	ACA,GCA	T562A	XP_016875898.1
XM_017020410.1	2286	Missense Mutation	ACA,GCA	T562A	XP_016875899.1
XM_017020411.1	2286	Missense Mutation	ACA,GCA	T562A	XP_016875900.1
XM_017020412.1	2286	Missense Mutation	ACA,GCA	T562A	XP_016875901.1
XM_017020413.1	2286	Missense Mutation	ACA,GCA	T562A	XP_016875902.1

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