Product Details

SNP ID

rs111746408

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:66926216 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTAAGAACCAACTGGTTGAGGTTC[A/C]ATGCAGACAAGACGGATGTGATGCT

Phenotype

MIM: 616848

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MIER1 PubMed Links

Gene Details

Gene

MIER1

Gene Name

MIER1 transcriptional regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077700.2	271	Missense Mutation	AAT,CAT	N48H	NP_001071168.2
NM_001077701.2	271	Intron			NP_001071169.1
NM_001077702.2	271	UTR 5			NP_001071170.2
NM_001077703.2	271	Missense Mutation	AAT,CAT	N48H	NP_001071171.2
NM_001077704.2	271	Intron			NP_001071172.1
NM_001146110.1	271	UTR 5			NP_001139582.1
NM_001146111.1	271	UTR 5			NP_001139583.1
NM_001146112.1	271	UTR 5			NP_001139584.1
NM_001146113.1	271	UTR 5			NP_001139585.1
NM_001278215.1	271	UTR 5			NP_001265144.1
NM_020948.3	271	UTR 5			NP_065999.2
XM_005271076.3	271	UTR 5			XP_005271133.1
XM_011541864.2	271	Missense Mutation	AAT,CAT	N48H	XP_011540166.1
XM_011541865.2	271	Missense Mutation	AAT,CAT	N48H	XP_011540167.1
XM_017001919.1	271	UTR 5			XP_016857408.1
XM_017001920.1	271	UTR 5			XP_016857409.1
XM_017001921.1	271	UTR 5			XP_016857410.1
XM_017001922.1	271	UTR 5			XP_016857411.1
XM_017001923.1	271	Missense Mutation	AAT,CAT	N48H	XP_016857412.1
XM_017001924.1	271	UTR 5			XP_016857413.1
XM_017001925.1	271	UTR 5			XP_016857414.1
XM_017001926.1	271	UTR 5			XP_016857415.1
XM_017001927.1	271	UTR 5			XP_016857416.1
XM_017001928.1	271	UTR 5			XP_016857417.1
XM_017001929.1	271	UTR 5			XP_016857418.1
XM_017001930.1	271	Intron			XP_016857419.1
XM_017001931.1	271	UTR 5			XP_016857420.1
XM_017001932.1	271	UTR 5			XP_016857421.1
XM_017001933.1	271	Intron			XP_016857422.1
XM_017001934.1	271	Intron			XP_016857423.1

Gene

WDR78

Gene Name

WD repeat domain 78

There are no transcripts associated with this gene.

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