Product Details

SNP ID

rs200153052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47652136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCATGGAGTCCTTGGTGAGGCTG[C/T]TGCTGAGCCTAGAGAAAAGAAACAA

Phenotype

MIM: 311040 MIM: 300234

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ELK1 PubMed Links

Gene Details

Gene

ELK1

Gene Name

ELK1, ETS transcription factor

There are no transcripts associated with this gene.

Gene

UXT

Gene Name

ubiquitously expressed prefoldin like chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004182.3	618	Missense Mutation	AAC,AGC	N122S	NP_004173.1
NM_153477.2	618	Missense Mutation	AAC,AGC	N134S	NP_705582.1

Gene

UXT-AS1

Gene Name

UXT antisense RNA 1

There are no transcripts associated with this gene.

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