Product Details

SNP ID

rs200847006

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:63834169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTGTTTCCATGCTTGCTTCCTGA[A/G]CTTCTTCTACCTCTGAGAGTTTTTC

Phenotype

MIM: 611965

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C3orf49 PubMed Links

Gene Details

Gene

C3orf49

Gene Name

chromosome 3 open reading frame 49

There are no transcripts associated with this gene.

Gene

THOC7

Gene Name

THO complex 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001285387.2	660	Missense Mutation	GCT,GTT	A141V	NP_001272316.1
NM_001285404.1	660	Missense Mutation	GCT,GTT	A141V	NP_001272333.1
NM_025075.3	660	Missense Mutation	GCT,GTT	A193V	NP_079351.2
XM_006713339.3	660	Missense Mutation	GCT,GTT	A141V	XP_006713402.1

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