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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