Product Details

SNP ID

rs183981518

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:75787533 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGATGTTATTATCAAGTCAGAT[G/T]CACCGGACACTTTGTTATTGGAGAA

Phenotype

MIM: 602105 MIM: 179080

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MSH4 PubMed Links

Gene Details

Gene

MSH4

Gene Name

mutS homolog 4

There are no transcripts associated with this gene.

Gene

RABGGTB

Gene Name

Rab geranylgeranyltransferase beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004582.3	118	Missense Mutation	GCA,TCA	A14S	NP_004573.2

Gene

SNORD45A

Gene Name

small nucleolar RNA, C/D box 45A

There are no transcripts associated with this gene.

Gene

SNORD45B

Gene Name

small nucleolar RNA, C/D box 45B

There are no transcripts associated with this gene.

Gene

SNORD45C

Gene Name

small nucleolar RNA, C/D box 45C

There are no transcripts associated with this gene.

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