Product Details

SNP ID

rs138302584

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:200981282 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGATGTCAAAACTACACCTGGGA[C/T]ATTAGCTGCATATTGAAACTTGGGG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM126B PubMed Links

Gene Details

Gene

FAM126B

Gene Name

family with sequence similarity 126 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321618.1	1827	Missense Mutation	ATA,ATG	I527M	NP_001308547.1
NM_001321619.1	1827	Missense Mutation	ATA,ATG	I527M	NP_001308548.1
NM_001321621.1	1827	Missense Mutation	ATA,ATG	I527M	NP_001308550.1
NM_001321622.1	1827	Missense Mutation	ATA,ATG	I527M	NP_001308551.1
NM_001321623.1	1827	Missense Mutation	ATA,ATG	I583M	NP_001308552.1
NM_001321624.1	1827	Missense Mutation	ATA,ATG	I583M	NP_001308553.1
NM_001321625.1	1827	Missense Mutation	ATA,ATG	I583M	NP_001308554.1
NM_001321626.1	1827	Missense Mutation	ATA,ATG	I583M	NP_001308555.1
NM_001321627.1	1827	Missense Mutation	ATA,ATG	I501M	NP_001308556.1
NM_001321628.1	1827	Missense Mutation	ATA,ATG	I501M	NP_001308557.1
NM_001321629.1	1827	Missense Mutation	ATA,ATG	I445M	NP_001308558.1
NM_173822.4	1827	Missense Mutation	ATA,ATG	I527M	NP_776183.1
XM_006712443.3	1827	Missense Mutation	ATA,ATG	I583M	XP_006712506.1
XM_011511002.2	1827	Missense Mutation	ATA,ATG	I583M	XP_011509304.1
XM_017003879.1	1827	Missense Mutation	ATA,ATG	I583M	XP_016859368.1
XM_017003880.1	1827	Missense Mutation	ATA,ATG	I583M	XP_016859369.1
XM_017003881.1	1827	Missense Mutation	ATA,ATG	I527M	XP_016859370.1
XM_017003882.1	1827	Missense Mutation	ATA,ATG	I501M	XP_016859371.1
XM_017003883.1	1827	Missense Mutation	ATA,ATG	I445M	XP_016859372.1

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