Product Details

SNP ID

rs141368992

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:202012344 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACCCTTCCTTCCTTCCTTGTCAG[C/T]TTCCAGCTCTTCTGATGAGCTCAGT

Phenotype

MIM: 602191 MIM: 602675

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ELF3 PubMed Links

Gene Details

Gene

ELF3

Gene Name

E74 like ETS transcription factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114309.1	539	Missense Mutation	ACT,ATT	T129I	NP_001107781.1
NM_004433.4	539	Missense Mutation	ACT,ATT	T129I	NP_004424.3
XM_005244942.2	539	Missense Mutation	ACT,ATT	T129I	XP_005244999.1

Gene

MIR6740

Gene Name

microRNA 6740

There are no transcripts associated with this gene.

Gene

RNPEP

Gene Name

arginyl aminopeptidase

There are no transcripts associated with this gene.

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