Product Details

SNP ID: rs145713423
Assay Type: Functionally tested
NCBI dbSNP Submissions: 1
Location: Chr.1:37799798 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGGCCGCCGGATTTGACGGCATGTA[C/T]ACCTACTTTGCCTCCAATGGTTTCT
Phenotype: MIM: 600172 MIM: 612276
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: C1orf122 PubMed Links

Gene Details

Gene: C1orf122
Gene Name: chromosome 1 open reading frame 122

There are no transcripts associated with this gene.

Gene: MANEAL
Gene Name: mannosidase endo-alpha like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031740.2	591	Intron			NP_001026910.1
NM_001113482.1	591	Silent Mutation	TAC,TAT	Y323Y	NP_001106954.1
NM_152496.2	591	Silent Mutation	TAC,TAT	Y101Y	NP_689709.1
XM_005270510.3	591	Intron			XP_005270567.1
XM_011540788.1	591	Silent Mutation	TAC,TAT	Y101Y	XP_011539090.1

Gene: MTF1
Gene Name: metal regulatory transcription factor 1

There are no transcripts associated with this gene.

Gene: YRDC
Gene Name: yrdC N6-threonylcarbamoyltransferase domain containing

There are no transcripts associated with this gene.

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