Product Details

SNP ID

rs200668743

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52694994 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATTCCAATGGAGTAACTTGGCAG[C/G]CTTTACAAACTGAGGTGAATATCGT

Phenotype

MIM: 608011 MIM: 606083

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GLT8D1 PubMed Links

Gene Details

Gene

GLT8D1

Gene Name

glycosyltransferase 8 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010983.2	1198	Missense Mutation	CCT,GCT	P323A	NP_001010983.1
NM_001278280.1	1198	Missense Mutation	CCT,GCT	P323A	NP_001265209.1
NM_001278281.1	1198	Missense Mutation	CCT,GCT	P323A	NP_001265210.1
NM_018446.3	1198	Missense Mutation	CCT,GCT	P323A	NP_060916.1
NM_152932.2	1198	Missense Mutation	CCT,GCT	P323A	NP_690909.1
XM_017006857.1	1198	Missense Mutation	CCT,GCT	P323A	XP_016862346.1
XM_017006858.1	1198	Missense Mutation	CCT,GCT	P323A	XP_016862347.1
XM_017006859.1	1198	Missense Mutation	CCT,GCT	P323A	XP_016862348.1

Gene

GNL3

Gene Name

G protein nucleolar 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014366.4	1198	Intron			NP_055181.3
NM_206825.1	1198	Intron			NP_996561.1
NM_206826.1	1198	Intron			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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