Product Details

SNP ID

rs138488746

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:104756628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCCATCTGGGGTAGCGTCCATTG[C/T]CTGTTCCTCATGCGTGCGAGCCGTG

Phenotype

MIM: 612498 MIM: 605567

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADSSL1 PubMed Links

Gene Details

Gene

ADSSL1

Gene Name

adenylosuccinate synthase like 1

There are no transcripts associated with this gene.

Gene

SIVA1

Gene Name

SIVA1 apoptosis inducing factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006427.3	212	Missense Mutation	GCC,GTC	A113V	NP_006418.2
NM_021709.2	212	Missense Mutation	GCC,GTC	A48V	NP_068355.1
XM_011536360.2	212	Missense Mutation	GCC,GTC	A113V	XP_011534662.1

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