Product Details

SNP ID: rs150717434
Assay Type: Functionally tested
NCBI dbSNP Submissions: 4
Location: Chr.1:37799636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAAGAGCCTCCCACTCTTTTATAT[A/C]TACGACTCATACCTGACGTCCCCTG
Phenotype: MIM: 600172 MIM: 612276
Polymorphism: A/C, Transversion 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	429	Intron			NP_001026910.1
NM_001113482.1	429	Silent Mutation	ATA,ATC	I269I	NP_001106954.1
NM_152496.2	429	Silent Mutation	ATA,ATC	I47I	NP_689709.1
XM_005270510.3	429	Intron			XP_005270567.1
XM_011540788.1	429	Silent Mutation	ATA,ATC	I47I	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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