Product Details

SNP ID

rs8078824

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:2344544 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCAGCAGATCCCCACCAAGGGC[C/T]CACCAGGTGCCAGACACCGTTCACC

Phenotype

MIM: 611418 MIM: 611214

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SGSM2 PubMed Links

Gene Details

Gene

SGSM2

Gene Name

small G protein signaling modulator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098509.1	270	Intron			NP_001091979.1
NM_014853.2	270	Intron			NP_055668.2
XM_011524101.2	270	Missense Mutation	CCC,CTC	P52L	XP_011522403.1
XM_011524102.2	270	Missense Mutation	CCC,CTC	P52L	XP_011522404.1
XM_011524103.2	270	Missense Mutation	CCC,CTC	P52L	XP_011522405.1
XM_011524104.2	270	Missense Mutation	CCC,CTC	P36L	XP_011522406.1
XM_011524105.2	270	Missense Mutation	CCC,CTC	P52L	XP_011522407.1
XM_011524106.1	270	Intron			XP_011522408.1
XM_011524107.2	270	Missense Mutation	CCC,CTC	P52L	XP_011522409.1
XM_011524108.1	270	Intron			XP_011522410.1
XM_011524109.2	270	Missense Mutation	CCC,CTC	P52L	XP_011522411.1
XM_011524110.2	270	Missense Mutation	CCC,CTC	P52L	XP_011522412.1
XM_017025474.1	270	Missense Mutation	CCC,CTC	P52L	XP_016880963.1
XM_017025475.1	270	Missense Mutation	CCC,CTC	P52L	XP_016880964.1
XM_017025476.1	270	Intron			XP_016880965.1

Gene

TSR1

Gene Name

TSR1, ribosome maturation factor

There are no transcripts associated with this gene.

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