Product Details

SNP ID

rs140473564

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50511748 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCTTCTCAGCAGAGATGGATCCC[C/T]GGCCTGGAGGGGAGCTGGCAGCAGG

Phenotype

MIM: 614545 MIM: 615324

Polymorphism

C/T, Transition 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	896	Silent Mutation	CCA,CCG	P173P	NP_001019827.2
NM_001114598.1	896	Silent Mutation	CCA,CCG	P278P	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	896	Intron			NP_001257568.1
NM_001270640.1	896	Intron			NP_001257569.1
NM_001270641.1	896	Intron			NP_001257570.1
NM_001270686.1	896	Intron			NP_001257615.1
NM_138334.3	896	Intron			NP_612207.1
XM_011526434.2	896	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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