Product Details

SNP ID

rs146974230

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:37537783 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACACTTCTTCCTCCTCCTCCTCAT[C/T]CTCGTCATCTTTCCTGTCTATTTCA

Phenotype

MIM: 608241

Polymorphism

C/T, Transition 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	1271	Missense Mutation	AAT,GAT	N386D	NP_078976.2

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