Product Details

SNP ID

rs3918001

Assay Type

Functionally tested

NCBI dbSNP Submissions

54

Location

Chr.1:36466902 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCCAGCCACTGTCCCTGTCTGGGTC[C/T]GGGCAGCTGTGGGGACATTCAACTG

Phenotype

MIM: 138971 MIM: 611979

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CSF3R PubMed Links

Gene Details

Gene

CSF3R

Gene Name

colony stimulating factor 3 receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000760.3	2193	Intron			NP_000751.1
NM_156039.3	2193	Missense Mutation	AGA,GGA	R683G	NP_724781.1
NM_172313.2	2193	Intron			NP_758519.1
XM_005270493.1	2193	Intron			XP_005270550.1
XM_011540748.2	2193	Missense Mutation	AGA,GGA	R683G	XP_011539050.1
XM_011540749.1	2193	Missense Mutation	AGA,GGA	R682G	XP_011539051.1
XM_011540750.1	2193	Missense Mutation	AGA,GGA	R459G	XP_011539052.1
XM_017000370.1	2193	Missense Mutation	AGA,GGA	R683G	XP_016855859.1

Gene

MRPS15

Gene Name

mitochondrial ribosomal protein S15

There are no transcripts associated with this gene.

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