Product Details

SNP ID

rs1944108

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:93731009 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCCCAATAAGCTGATTGCTAGCAA[A/C]GTAGCAGATAGAAAACCTACTGGGA

Phenotype

MIM: 612823

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CEP295 PubMed Links

Gene Details

Gene

CEP295

Gene Name

centrosomal protein 295

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033395.1		Intron			NP_203753.1
XM_005274366.1		Intron			XP_005274423.1
XM_005274367.2		Intron			XP_005274424.1
XM_005274368.2		Intron			XP_005274425.1
XM_011543047.1		Intron			XP_011541349.1
XM_011543048.1		Intron			XP_011541350.1
XM_011543049.1		Intron			XP_011541351.1
XM_011543050.2		Intron			XP_011541352.1
XM_011543053.2		Intron			XP_011541355.1
XM_011543054.2		Intron			XP_011541356.1
XM_017018470.1		Intron			XP_016873959.1
XM_017018471.1		Intron			XP_016873960.1
XM_017018472.1		Intron			XP_016873961.1
XM_017018473.1		Intron			XP_016873962.1
XM_017018474.1		Intron			XP_016873963.1
XM_017018475.1		Intron			XP_016873964.1
XM_017018476.1		Intron			XP_016873965.1

Gene

MIR1304

Gene Name

microRNA 1304

There are no transcripts associated with this gene.

Gene

SCARNA9

Gene Name

small Cajal body-specific RNA 9

There are no transcripts associated with this gene.

Gene

SNORA1

Gene Name

small nucleolar RNA, H/ACA box 1

There are no transcripts associated with this gene.

Gene

SNORA18

Gene Name

small nucleolar RNA, H/ACA box 18

There are no transcripts associated with this gene.

Gene

SNORA25

Gene Name

small nucleolar RNA, H/ACA box 25

There are no transcripts associated with this gene.

Gene

SNORA32

Gene Name

small nucleolar RNA, H/ACA box 32

There are no transcripts associated with this gene.

Gene

SNORA40

Gene Name

small nucleolar RNA, H/ACA box 40

There are no transcripts associated with this gene.

Gene

SNORA8

Gene Name

small nucleolar RNA, H/ACA box 8

There are no transcripts associated with this gene.

Gene

SNORD5

Gene Name

small nucleolar RNA, C/D box 5

There are no transcripts associated with this gene.

Gene

SNORD6

Gene Name

small nucleolar RNA, C/D box 6

There are no transcripts associated with this gene.

Gene

TAF1D

Gene Name

TATA-box binding protein associated factor, RNA polymerase I subunit D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024116.3		Intron			NP_077021.1

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