Product Details

SNP ID

rs201854740

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:1288538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCAGCTCAGTAACAACGAATGTT[C/G]GTGCACATTTCGTGAAATTTGTCTG

Phenotype

MIM: 306250 MIM: 425000

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CSF2RA PubMed Links

Gene Details

Gene

CSF2RA

Gene Name

colony stimulating factor 2 receptor alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161529.1	400	Missense Mutation	TCG,TGG	S80W	NP_001155001.1
NM_001161530.1	400	Intron			NP_001155002.1
NM_001161531.1	400	Missense Mutation	TCG,TGG	S80W	NP_001155003.1
NM_001161532.1	400	Intron			NP_001155004.1
NM_006140.4	400	Missense Mutation	TCG,TGG	S80W	NP_006131.2
NM_172245.2	400	Missense Mutation	TCG,TGG	S80W	NP_758448.1
NM_172246.2	400	Missense Mutation	TCG,TGG	S80W	NP_758449.1
NM_172247.2	400	Intron			NP_758450.1
NM_172249.2	400	Intron			NP_758452.1
XM_011546165.2	400	Missense Mutation	TCG,TGG	S80W	XP_011544467.1
XM_011546166.1	400	Missense Mutation	TCG,TGG	S80W	XP_011544468.1
XM_011546167.2	400	Missense Mutation	TCG,TGG	S80W	XP_011544469.1
XM_011546168.2	400	Missense Mutation	TCG,TGG	S80W	XP_011544470.1
XM_011546169.1	400	Missense Mutation	TCG,TGG	S80W	XP_011544471.1
XM_011546170.2	400	Missense Mutation	TCG,TGG	S80W	XP_011544472.1
XM_011546173.1	400	Intron			XP_011544475.1
XM_011546174.2	400	Missense Mutation	TCG,TGG	S80W	XP_011544476.1
XM_011546175.2	400	Missense Mutation	TCG,TGG	S80W	XP_011544477.1
XM_017029287.1	400	Missense Mutation	TCG,TGG	S80W	XP_016884776.1
XM_017029288.1	400	Missense Mutation	TCG,TGG	S80W	XP_016884777.1

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