Product Details

SNP ID

rs200552223

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:110298656 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTTTTCTACACTTACTGTCCATC[C/T]TCACTCCAGACTGCCATACACTTGT

Phenotype

MIM: 603519

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SMNDC1 PubMed Links

Gene Details

Gene

SMNDC1

Gene Name

survival motor neuron domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005871.3	457	Silent Mutation	GAA,GAG	E85E	NP_005862.1
XM_005269382.3	457	Silent Mutation	GAA,GAG	E46E	XP_005269439.1

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