Product Details

SNP ID

rs1059579

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.X:47639001 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

CGCTGCTGCCCCTGCAGGAGCTGCA[C/T]TGGGGAGCACCACAGCAGGCCGAGG

Phenotype

MIM: 300383 MIM: 311040

Polymorphism

C/T, Transition 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	764	Missense Mutation	AAT,AGT	N183S	NP_001107595.1
NM_001257168.1	764	Intron			NP_001244097.1
NM_005229.4	764	Missense Mutation	AAT,AGT	N183S	NP_005220.2
XM_017029339.1	764	Missense Mutation	AAT,AGT	N183S	XP_016884828.1

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