Product Details

SNP ID

rs139767774

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47639084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGAAGGTGGAATAGAGGCCCGA[C/G]CGCATGTACTCGTTCCGGCTGCTGC

Phenotype

MIM: 300383 MIM: 311040

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CFP PubMed Links

Gene Details

Gene

CFP

Gene Name

complement factor properdin

There are no transcripts associated with this gene.

Gene

ELK1

Gene Name

ELK1, ETS transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114123.2	681	Silent Mutation	CGC,CGG	R155R	NP_001107595.1
NM_001257168.1	681	Intron			NP_001244097.1
NM_005229.4	681	Silent Mutation	CGC,CGG	R155R	NP_005220.2
XM_017029339.1	681	Silent Mutation	CGC,CGG	R155R	XP_016884828.1

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