Product Details

SNP ID

rs115595421

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:37811345 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACAGTCTCACAGCACAGGGCTGA[C/T]TGAGCGGAAAAACGCTGCCAGGCCA

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

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	6358	UTR 3			NP_005946.2
XM_011541491.2	6358	UTR 3			XP_011539793.1
XM_011541493.2	6358	Intron			XP_011539795.1
XM_011541494.1	6358	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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