Product Details

SNP ID

rs140594225

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:99848431 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTATCCTGCAGTGGTGCTGAAGGG[C/T]TGGCAGGTCTCACAGGGCTGGCTAC

Phenotype

MIM: 612993

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CMSS1 PubMed Links

Gene Details

Gene

CMSS1

Gene Name

cms1 ribosomal small subunit homolog (yeast)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167924.1	3716	Intron			NP_001161396.1
NM_032359.3	3716	Intron			NP_115735.2

Gene

FILIP1L

Gene Name

filamin A interacting protein 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042459.2	3716	Missense Mutation	AAC,AGC	N1082S	NP_001035924.1
NM_001282793.1	3716	Missense Mutation	AAC,AGC	N658S	NP_001269722.1
NM_001282794.1	3716	Missense Mutation	AAC,AGC	N842S	NP_001269723.1
NM_014890.3	3716	Missense Mutation	AAC,AGC	N842S	NP_055705.2
NM_182909.3	3716	Missense Mutation	AAC,AGC	N1082S	NP_878913.2
XM_006713486.2	3716	Missense Mutation	AAC,AGC	N842S	XP_006713549.1
XM_011512371.2	3716	Missense Mutation	AAC,AGC	N894S	XP_011510673.1

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