Product Details

SNP ID

rs199521700

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:205600440 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGACAGATCAATTGGAATGGAAAA[C/T]TCTGAGTGCTACCAGAGGTAAAACT

Phenotype

MIM: 600246

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ELK4 PubMed Links

Gene Details

Gene

ELK4

Gene Name

ELK4, ETS transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001973.3	1610	Intron			NP_001964.2
NM_021795.2	1610	Intron			NP_068567.1
XM_005244950.4	1610	Intron			XP_005245007.1
XM_005244951.4	1610	Intron			XP_005245008.1
XM_017000580.1	1610	Intron			XP_016856069.1

Gene

MFSD4A

Gene Name

major facilitator superfamily domain containing 4A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181644.4	1610	Silent Mutation	AAC,AAT	N508N	NP_857595.3
XM_011509229.2	1610	Silent Mutation	AAC,AAT	N421N	XP_011507531.1

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