Product Details

SNP ID

rs115424730

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45402623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTCTGCACTGCCTGGCCTCGGC[A/G]GGACGGAGCGGACGGCTTTGTGCAG

Phenotype

MIM: 602360

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GATM PubMed Links

Gene Details

Gene

GATM

Gene Name

glycine amidinotransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321015.1	303	Intron			NP_001307944.1
NM_001482.2	303	Intron			NP_001473.1

Gene

SPATA5L1

Gene Name

spermatogenesis associated 5 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323640.1	303	Missense Mutation	CAG,CGG	Q65R	NP_001310569.1
NM_024063.2	303	Missense Mutation	CAG,CGG	Q65R	NP_076968.2

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