Product Details

SNP ID
rs473279
Assay Type
Functionally tested
NCBI dbSNP Submissions
73
Location
Chr.1:37810130 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAAGGATGTAGACTGTTGAGTCAAA[C/T]AGCCCTTGGGAGGCCTGAGAACACA
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142726.1 7573 Intron NP_001136198.1
NM_198446.2 7573 Intron NP_940848.2
Gene
MANEAL
Gene Name
mannosidase endo-alpha like
There are no transcripts associated with this gene.

Gene
MTF1
Gene Name
metal regulatory transcription factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005955.2 7573 UTR 3 NP_005946.2
XM_011541491.2 7573 UTR 3 XP_011539793.1
XM_011541493.2 7573 Intron XP_011539795.1
XM_011541494.1 7573 UTR 3 XP_011539796.1
Gene
YRDC
Gene Name
yrdC N6-threonylcarbamoyltransferase domain containing
There are no transcripts associated with this gene.

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