Product Details

SNP ID

rs147266632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:13088897 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGGTGTAAGTTCAATGAAACTT[C/T]GGCACCTCTCCCCTGAAACATACAA

Phenotype

Polymorphism

C/T, Transition 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	684	Missense Mutation	CAA,CGA	Q149R	NP_001074023.1
NM_001080555.2	684	Missense Mutation	CAA,CGA	Q149R	NP_001074024.1
NM_001206842.1	684	Missense Mutation	CAA,CGA	Q126R	NP_001193771.1
NM_001206843.1	684	Missense Mutation	CAA,CGA	Q136R	NP_001193772.1
NM_001206845.1	684	Missense Mutation	CAA,CGA	Q113R	NP_001193774.1
NM_031289.3	684	Missense Mutation	CAA,CGA	Q113R	NP_112579.2
NM_153823.3	684	Missense Mutation	CAA,CGA	Q113R	NP_722545.2
XM_005253493.2	684	Missense Mutation	CAA,CGA	Q173R	XP_005253550.1
XM_005253495.1	684	Missense Mutation	CAA,CGA	Q173R	XP_005253552.1
XM_011520858.1	684	Missense Mutation	CAA,CGA	Q173R	XP_011519160.1
XM_011520859.1	684	Missense Mutation	CAA,CGA	Q149R	XP_011519161.1
XM_011520860.1	684	Missense Mutation	CAA,CGA	Q173R	XP_011519162.1
XM_011520861.1	684	Missense Mutation	CAA,CGA	Q126R	XP_011519163.1
XM_011520862.1	684	Missense Mutation	CAA,CGA	Q149R	XP_011519164.1
XM_011520863.1	684	Missense Mutation	CAA,CGA	Q126R	XP_011519165.1

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