Product Details

SNP ID

rs5030689

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:99105797 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGAGTCGTGGCGGGAGACGGTG[C/T]AGCTGTACGAGGACGAGGTGCGCGA

Phenotype

MIM: 606087

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SYNM PubMed Links

Gene Details

Gene

SYNM

Gene Name

synemin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015286.5	718	Nonsense Mutation	CAG,TAG	Q200*	NP_056101.5
NM_145728.2	718	Nonsense Mutation	CAG,TAG	Q200*	NP_663780.2
XM_017022035.1	718	Nonsense Mutation	CAG,TAG	Q200*	XP_016877524.1

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