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SNP ID: rs149138180
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:4797465 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAAGCTCCTGGGTGCTGTGATCAGA[A/G]GGGTCTGTAGCTCCAGTAGCTGGAG
Phenotype: MIM: 610660 MIM: 614574 MIM: 611562
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: GLYR1 PubMed Links

Gene Details

Gene: GLYR1
Gene Name: glyoxylate reductase 1 homolog

There are no transcripts associated with this gene.

Gene: ROGDI
Gene Name: rogdi homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024589.2	1238	Missense Mutation	CTC,TTC	L287F	NP_078865.1
XM_006720947.3	1238	Missense Mutation	CTC,TTC	L294F	XP_006721010.1
XM_006720948.3	1238	Missense Mutation	CTC,TTC	L204F	XP_006721011.1

Gene: SEPT12
Gene Name: septin 12

There are no transcripts associated with this gene.

Gene: SMIM22
Gene Name: small integral membrane protein 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001253790.1	1238	Intron			NP_001240719.1
NM_001253791.1	1238	Intron			NP_001240720.1
NM_001253793.1	1238	Intron			NP_001240722.1
NM_001253794.1	1238	Intron			NP_001240723.1
XM_011522499.2	1238	Intron			XP_011520801.1
XM_011522500.2	1238	Intron			XP_011520802.1
XM_011522501.2	1238	Intron			XP_011520803.1

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