Product Details

SNP ID

rs147441398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:150896523 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACACTGATTATCATCAAAAGGT[A/G]TTACTCCATTGTGAATCTTCTCAAG

Phenotype

MIM: 608212 MIM: 612429

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IRGM PubMed Links

Gene Details

Gene

IRGM

Gene Name

immunity related GTPase M

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145805.1	1137	Intron			NP_001139277.1
XM_011537641.2	1137	Intron			XP_011535943.1

Gene

ZNF300

Gene Name

zinc finger protein 300

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172831.1	1137	Missense Mutation	ACA,ATA	T255I	NP_001166302.1
NM_001172832.1	1137	Missense Mutation	ACA,ATA	T203I	NP_001166303.1
NM_052860.2	1137	Missense Mutation	ACA,ATA	T239I	NP_443092.1
XM_011537702.2	1137	Missense Mutation	ACA,ATA	T244I	XP_011536004.1

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