Product Details

SNP ID

rs139444934

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52688181 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATTCAAAGAAGCTGTACTGCCAA[G/T]AACTTAAAAAGGTATCTTAGCCTAG

Phenotype

MIM: 608011 MIM: 606083

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GLT8D1 PubMed Links

Gene Details

Gene

GLT8D1

Gene Name

glycosyltransferase 8 domain containing 1

There are no transcripts associated with this gene.

Gene

GNL3

Gene Name

G protein nucleolar 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014366.4	570	Nonsense Mutation	GAA,TAA	E133*	NP_055181.3
NM_206825.1	570	Nonsense Mutation	GAA,TAA	E121*	NP_996561.1
NM_206826.1	570	Nonsense Mutation	GAA,TAA	E121*	NP_996562.1

Gene

PBRM1

Gene Name

polybromo 1

There are no transcripts associated with this gene.

Gene

SNORD136

Gene Name

small nucleolar RNA, C/D box 136

There are no transcripts associated with this gene.

Gene

SNORD19

Gene Name

small nucleolar RNA, C/D box 19

There are no transcripts associated with this gene.

Gene

SNORD19B

Gene Name

small nucleolar RNA, C/D box 19B

There are no transcripts associated with this gene.

Gene

SNORD69

Gene Name

small nucleolar RNA, C/D box 69

There are no transcripts associated with this gene.

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