Product Details

SNP ID

rs143390652

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:19057967 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTCTATTTAAACCTTACCCTTTA[A/T]ATTAGGTAGTTCTCCAAGACTACAT

Phenotype

MIM: 613433 MIM: 612194 MIM: 616292 MIM: 615646

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

HAUS6 PubMed Links

Gene Details

Gene

HAUS6

Gene Name

HAUS augmin like complex subunit 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270890.1	1939	Intron			NP_001257819.1
NM_017645.4	1939	Intron			NP_060115.3
XM_011517935.2	1939	Missense Mutation	ATA,TTA	I503L	XP_011516237.1
XM_017014830.1	1939	Intron			XP_016870319.1

Gene

RRAGA

Gene Name

Ras related GTP binding A

There are no transcripts associated with this gene.

Gene

SAXO1

Gene Name

stabilizer of axonemal microtubules 1

There are no transcripts associated with this gene.

Gene

SCARNA8

Gene Name

small Cajal body-specific RNA 8

There are no transcripts associated with this gene.

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