Product Details

SNP ID

rs201473713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127454540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAAAGGGAAGGATGCCGCTCTTC[C/T]TCCGGAAGCGGAAACCCAGTGAGGA

Phenotype

MIM: 610933 MIM: 180475 MIM: 194552

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRSAM1 PubMed Links

Gene Details

Gene

LRSAM1

Gene Name

leucine rich repeat and sterile alpha motif containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005373.3	1384	Missense Mutation	CTC,TTC	L5F	NP_001005373.1
NM_001005374.3	1384	Missense Mutation	CTC,TTC	L5F	NP_001005374.1
NM_001190723.2	1384	Missense Mutation	CTC,TTC	L5F	NP_001177652.1
NM_138361.5	1384	Missense Mutation	CTC,TTC	L5F	NP_612370.3
XM_006717316.3	1384	Missense Mutation	CTC,TTC	L5F	XP_006717379.1
XM_017015283.1	1384	Missense Mutation	CTC,TTC	L5F	XP_016870772.1
XM_017015284.1	1384	UTR 5			XP_016870773.1

Gene

RPL12

Gene Name

ribosomal protein L12

There are no transcripts associated with this gene.

Gene

SNORA65

Gene Name

small nucleolar RNA, H/ACA box 65

There are no transcripts associated with this gene.

Gene

ZNF79

Gene Name

zinc finger protein 79

There are no transcripts associated with this gene.

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