Product Details

SNP ID
rs182968011
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18329378 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGCAGTCCACTGGGCCGCAGAGC[A/G]CTTCTGTCACCTACAAGATAAACGG
Phenotype
MIM: 182144
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SHMT1 PubMed Links

Gene Details

Gene
SHMT1
Gene Name
serine hydroxymethyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281786.1 Intron NP_001268715.1
NM_004169.4 Intron NP_004160.3
NM_148918.2 Intron NP_683718.1
XM_005256767.3 Intron XP_005256824.1
XM_011523992.2 Intron XP_011522294.1
XM_017024957.1 Intron XP_016880446.1
XM_017024958.1 Intron XP_016880447.1
XM_017024959.1 Intron XP_016880448.1
XM_017024960.1 Intron XP_016880449.1
Gene
SMCR8
Gene Name
Smith-Magenis syndrome chromosome region, candidate 8
There are no transcripts associated with this gene.

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