Product Details

SNP ID

hCV15948679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:102802596 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAAGGGGTAGTCTGTAGGAAAAT[A/G]AATTGTCAAAAAGAATACACCGCCT

Phenotype

MIM: 602963

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC102723704 PubMed Links

Gene Details

Gene

LOC102723704

Gene Name

uncharacterized LOC102723704

There are no transcripts associated with this gene.

Gene

UBE2D3

Gene Name

ubiquitin conjugating enzyme E2 D3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300795.1	813	Missense Mutation	CAT,TAT	H26Y	NP_001287724.1
NM_003340.6	813	Missense Mutation	CAT,TAT	H55Y	NP_003331.1
NM_181886.3	813	Missense Mutation	CAT,TAT	H55Y	NP_871615.1
NM_181887.2	813	Missense Mutation	CAT,TAT	H55Y	NP_871616.1
NM_181888.3	813	Missense Mutation	CAT,TAT	H55Y	NP_871617.1
NM_181889.2	813	Missense Mutation	CAT,TAT	H55Y	NP_871618.1
NM_181890.2	813	Missense Mutation	CAT,TAT	H55Y	NP_871619.1
NM_181891.2	813	Missense Mutation	CAT,TAT	H55Y	NP_871620.1
NM_181892.3	813	Missense Mutation	CAT,TAT	H55Y	NP_871621.1
NM_181893.2	813	Missense Mutation	CAT,TAT	H57Y	NP_871622.1

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