Product Details

SNP ID

rs113313135

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89721797 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGACGGCGCGGCGCGCCTGGGGC[C/T]CGGTGGGGTCCTGCGGGGACGCGGG

Phenotype

MIM: 608460

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

VPS9D1 PubMed Links

Gene Details

Gene

VPS9D1

Gene Name

VPS9 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004913.2	254	Intron			NP_004904.2
XM_005256329.4	254	Intron			XP_005256386.1
XM_005256330.4	254	Intron			XP_005256387.1
XM_005256331.2	254	Intron			XP_005256388.1
XM_006721350.2	254	Intron			XP_006721413.1
XM_011523476.2	254	Intron			XP_011521778.1
XM_011523477.2	254	Intron			XP_011521779.1
XM_011523478.2	254	Intron			XP_011521780.1
XM_011523479.2	254	Intron			XP_011521781.1
XM_011523480.2	254	Intron			XP_011521782.1

Gene

VPS9D1-AS1

Gene Name

VPS9D1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

ZNF276

Gene Name

zinc finger protein 276

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001113525.1	254	Missense Mutation	CCG,TCG	P53S	NP_001106997.1
NM_152287.3	254	Intron			NP_689500.2
XM_005256324.3	254	Missense Mutation	CCG,TCG	P53S	XP_005256381.1
XM_005256328.3	254	Intron			XP_005256385.1
XM_017023889.1	254	Missense Mutation	CCG,TCG	P53S	XP_016879378.1
XM_017023890.1	254	Intron			XP_016879379.1

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