Product Details

SNP ID

rs202170428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:97930426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCGTTACATGTTTTATGAGGAAG[C/G]TATTTAGGTTCAGCTGATTCTTGGT

Phenotype

MIM: 610715

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HEMGN PubMed Links

Gene Details

Gene

HEMGN

Gene Name

hemogen

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018437.4	1134	Nonsense Mutation	TAC,TAG	Y323*	NP_060907.2
NM_197978.2	1134	Nonsense Mutation	TAC,TAG	Y323*	NP_932095.1
XM_005252086.1	1134	Nonsense Mutation	TAC,TAG	Y323*	XP_005252143.1
XM_011518845.2	1134	Nonsense Mutation	TAC,TAG	Y323*	XP_011517147.1
XM_011518846.2	1134	Nonsense Mutation	TAC,TAG	Y323*	XP_011517148.1

Gene

TRMO

Gene Name

tRNA methyltransferase O

There are no transcripts associated with this gene.

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