Product Details

SNP ID

rs191265397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:99848385 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTGGTTGTTTTGTTTAGTGCCCC[C/G]TTAATTAAGCCTTGAGTTCGGTTAT

Phenotype

MIM: 612993

Polymorphism

C/G, Transversion 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	3762	Intron			NP_001161396.1
NM_032359.3	3762	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	3762	Silent Mutation	AAC,AAG	N1097K	NP_001035924.1
NM_001282793.1	3762	Silent Mutation	AAC,AAG	N673K	NP_001269722.1
NM_001282794.1	3762	Silent Mutation	AAC,AAG	N857K	NP_001269723.1
NM_014890.3	3762	Silent Mutation	AAC,AAG	N857K	NP_055705.2
NM_182909.3	3762	Silent Mutation	AAC,AAG	N1097K	NP_878913.2
XM_006713486.2	3762	Silent Mutation	AAC,AAG	N857K	XP_006713549.1
XM_011512371.2	3762	Silent Mutation	AAC,AAG	N909K	XP_011510673.1

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