Product Details

SNP ID

rs146054932

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:33852941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAACAAGCTGTCTCACGGCATT[C/G]ATTTCAGTTGGACTCAGCTGGGGTC

Phenotype

MIM: 603577

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NOL4 PubMed Links

Gene Details

Gene

NOL4

Gene Name

nucleolar protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198546.1	1856	Silent Mutation	ATC,ATG	I542M	NP_001185475.1
NM_001198547.1	1856	Silent Mutation	ATC,ATG	I532M	NP_001185476.1
NM_001198548.1	1856	Silent Mutation	ATC,ATG	I504M	NP_001185477.1
NM_001198549.1	1856	Silent Mutation	ATC,ATG	I321M	NP_001185478.1
NM_001282527.1	1856	Silent Mutation	ATC,ATG	I387M	NP_001269456.1
NM_003787.4	1856	Silent Mutation	ATC,ATG	I606M	NP_003778.2
XM_006722563.2	1856	Silent Mutation	ATC,ATG	I606M	XP_006722626.1
XM_006722564.2	1856	Silent Mutation	ATC,ATG	I468M	XP_006722627.1
XM_006722565.1	1856	Silent Mutation	ATC,ATG	I451M	XP_006722628.1
XM_011526237.1	1856	Missense Mutation	ATC,ATG	I606M	XP_011524539.1
XM_011526238.1	1856	Silent Mutation	ATC,ATG	I492M	XP_011524540.1
XM_011526239.2	1856	Silent Mutation	ATC,ATG	I451M	XP_011524541.1
XM_017026052.1	1856	Silent Mutation	ATC,ATG	I486M	XP_016881541.1
XM_017026053.1	1856	Silent Mutation	ATC,ATG	I451M	XP_016881542.1
XM_017026054.1	1856	Silent Mutation	ATC,ATG	I451M	XP_016881543.1
XM_017026055.1	1856	Silent Mutation	ATC,ATG	I387M	XP_016881544.1
XM_017026056.1	1856	Silent Mutation	ATC,ATG	I387M	XP_016881545.1
XM_017026057.1	1856	Silent Mutation	ATC,ATG	I355M	XP_016881546.1
XM_017026058.1	1856	Silent Mutation	ATC,ATG	I451M	XP_016881547.1
XM_017026059.1	1856	Silent Mutation	ATC,ATG	I321M	XP_016881548.1
XM_017026060.1	1856	Silent Mutation	ATC,ATG	I291M	XP_016881549.1

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