Product Details

SNP ID

rs1048039

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50194184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCATCATCTTCATCGCGGCGCTGA[C/G]CGCCTACGACATGGTGCTAGTGGAG

Phenotype

MIM: 139330 MIM: 601124

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GNAT1 PubMed Links

Gene Details

Gene

GNAT1

Gene Name

G protein subunit alpha transducin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000172.3	787	Missense Mutation	ACC,AGC	T224S	NP_000163.2
NM_144499.2	787	Missense Mutation	ACC,AGC	T224S	NP_653082.1

Gene

SEMA3F

Gene Name

semaphorin 3F

There are no transcripts associated with this gene.

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