Product Details

SNP ID

hCV86388493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50517827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGCCGCGGCGGCCACGGACACG[C/G]CCGAGGCGGCGGGCAGCTCGTCCTC

Phenotype

MIM: 615324

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ASPDH PubMed Links

Gene Details

Gene

ASPDH

Gene Name

aspartate dehydrogenase domain containing

There are no transcripts associated with this gene.

Gene

JOSD2

Gene Name

Josephin domain containing 2

There are no transcripts associated with this gene.

Gene

LRRC4B

Gene Name

leucine rich repeat containing 4B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080457.1	2023	Missense Mutation	GCC,GGC	A629G	NP_001073926.1

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