Product Details

SNP ID

rs138546362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:13087172 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTACTAGAAGGCCCAGCCATAATT[C/G]CAAACATGTGGTCTCCAGTCTTCTG

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAM234B PubMed Links

Gene Details

Gene

FAM234B

Gene Name

family with sequence similarity 234 member B

There are no transcripts associated with this gene.

Gene

GSG1

Gene Name

germ cell associated 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080554.2	964	Missense Mutation	CAA,GAA	Q284E	NP_001074023.1
NM_001080555.2	964	Missense Mutation	TGC,TGG	C242W	NP_001074024.1
NM_001206842.1	964	Missense Mutation	TGC,TGG	C219W	NP_001193771.1
NM_001206843.1	964	Missense Mutation	TGC,TGG	C178W	NP_001193772.1
NM_001206845.1	964	Missense Mutation	TGC,TGG	C155W	NP_001193774.1
NM_031289.3	964	Missense Mutation	CAA,GAA	Q248E	NP_112579.2
NM_153823.3	964	Missense Mutation	TGC,TGG	C206W	NP_722545.2
XM_005253493.2	964	Missense Mutation	TGC,TGG	C266W	XP_005253550.1
XM_005253495.1	964	Missense Mutation	CAA,GAA	Q308E	XP_005253552.1
XM_011520858.1	964	Missense Mutation	TGC,TGG	C275W	XP_011519160.1
XM_011520859.1	964	Missense Mutation	TGC,TGG	C251W	XP_011519161.1
XM_011520860.1	964	Missense Mutation	CAA,GAA	Q317E	XP_011519162.1
XM_011520861.1	964	Missense Mutation	TGC,TGG	C228W	XP_011519163.1
XM_011520862.1	964	Missense Mutation	CAA,GAA	Q293E	XP_011519164.1
XM_011520863.1	964	Missense Mutation	CAA,GAA	Q270E	XP_011519165.1

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