Product Details

SNP ID

rs151254015

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50511746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGCTTCTCAGCAGAGATGGATC[C/G]CCGGCCTGGAGGGGAGCTGGCAGCA

Phenotype

MIM: 614545 MIM: 615324

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ASPDH PubMed Links

Gene Details

Gene

ASPDH

Gene Name

aspartate dehydrogenase domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024656.2	898	Missense Mutation	GCG,GGG	A174G	NP_001019827.2
NM_001114598.1	898	Missense Mutation	GCG,GGG	A279G	NP_001108070.1

Gene

EMC10

Gene Name

ER membrane protein complex subunit 10

There are no transcripts associated with this gene.

Gene

JOSD2

Gene Name

Josephin domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270639.1	898	Intron			NP_001257568.1
NM_001270640.1	898	Intron			NP_001257569.1
NM_001270641.1	898	Intron			NP_001257570.1
NM_001270686.1	898	Intron			NP_001257615.1
NM_138334.3	898	Intron			NP_612207.1
XM_011526434.2	898	Intron			XP_011524736.1

Gene

LRRC4B

Gene Name

leucine rich repeat containing 4B

There are no transcripts associated with this gene.

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