Product Details

SNP ID

rs150740046

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:37540157 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTTCTTCCTCCATGTTACTTAC[A/C]GATATTGAAAGACCGCATGCTGCTT

Phenotype

MIM: 608241

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SNIP1 PubMed Links

Gene Details

Gene

SNIP1

Gene Name

Smad nuclear interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024700.3	1041	Missense Mutation	CGG,CTG	R309L	NP_078976.2

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