Product Details

SNP ID

rs144150639

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:2337692 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCGCCGCCTCCTGCCACACCATG[A/G]GCAGCGCAGAGGACGCAGTCAAAGA

Phenotype

MIM: 611418 MIM: 611214

Polymorphism

A/G, 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	119	Missense Mutation	AGC,GGC	S2G	NP_001091979.1
NM_014853.2	119	Missense Mutation	AGC,GGC	S2G	NP_055668.2
XM_011524101.2	119	Missense Mutation	AGC,GGC	S2G	XP_011522403.1
XM_011524102.2	119	Missense Mutation	AGC,GGC	S2G	XP_011522404.1
XM_011524103.2	119	Missense Mutation	AGC,GGC	S2G	XP_011522405.1
XM_011524104.2	119	Intron			XP_011522406.1
XM_011524105.2	119	Missense Mutation	AGC,GGC	S2G	XP_011522407.1
XM_011524106.1	119	Missense Mutation	AGC,GGC	S2G	XP_011522408.1
XM_011524107.2	119	Missense Mutation	AGC,GGC	S2G	XP_011522409.1
XM_011524108.1	119	Missense Mutation	AGC,GGC	S2G	XP_011522410.1
XM_011524109.2	119	Missense Mutation	AGC,GGC	S2G	XP_011522411.1
XM_011524110.2	119	Missense Mutation	AGC,GGC	S2G	XP_011522412.1
XM_017025474.1	119	Missense Mutation	AGC,GGC	S2G	XP_016880963.1
XM_017025475.1	119	Missense Mutation	AGC,GGC	S2G	XP_016880964.1
XM_017025476.1	119	Intron			XP_016880965.1

Gene

SNORD91A

Gene Name

small nucleolar RNA, C/D box 91A

There are no transcripts associated with this gene.

Gene

SNORD91B

Gene Name

small nucleolar RNA, C/D box 91B

There are no transcripts associated with this gene.

Gene

TSR1

Gene Name

TSR1, ribosome maturation factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018128.4	119	Intron			NP_060598.3

View Full Product Details