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SNP ID: rs138245860
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:7861167 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCGTACCTGAACAACTTGATAACC[A/G]AGTAACTGTAGGTGTCTTTGTTTAA
Phenotype: MIM: 602568
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: C5orf49 PubMed Links

Gene Details

Gene: C5orf49
Gene Name: chromosome 5 open reading frame 49

There are no transcripts associated with this gene.

Gene: FASTKD3
Gene Name: FAST kinase domains 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024091.3	2038	Silent Mutation	CTC,CTT	L622L	NP_076996.2
XM_006714498.1	2038	Silent Mutation	CTC,CTT	L622L	XP_006714561.1

Gene: MTRR
Gene Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002454.2	2038	Intron			NP_002445.2
NM_024010.2	2038	Intron			NP_076915.2

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