Product Details

SNP ID

rs141939389

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127507320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGCTGTTGCTGTACTCCTCGCCC[A/C]AGTCGATGGGGGCGCCCTCGGCCAG

Phenotype

MIM: 614045 MIM: 610933

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FAM129B PubMed Links

Gene Details

Gene

FAM129B

Gene Name

family with sequence similarity 129 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001035534.2	1797	Missense Mutation	TGG,TTG	W576L	NP_001030611.1
NM_022833.3	1797	Missense Mutation	TGG,TTG	W589L	NP_073744.2
XM_005252135.2	1797	Missense Mutation	TGG,TTG	W614L	XP_005252192.2
XM_011518925.1	1797	Missense Mutation	TGG,TTG	W619L	XP_011517227.1

Gene

LRSAM1

Gene Name

leucine rich repeat and sterile alpha motif containing 1

There are no transcripts associated with this gene.

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