Product Details

SNP ID

rs115350620

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:93101537 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAAGCAAAAGTTCTTGGACTTTTT[C/T]CTCCTTCCACACATCTCCACTCTGC

Phenotype

MIM: 610456

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SAMD9 PubMed Links

Gene Details

Gene

SAMD9

Gene Name

sterile alpha motif domain containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193307.1	4730	Missense Mutation	AAA,GAA	K1521E	NP_001180236.1
NM_017654.3	4730	Missense Mutation	AAA,GAA	K1521E	NP_060124.2

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