Product Details

SNP ID

rs139722350

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:126254330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTCGAGTGGGCTCAGGAGAAGC[A/G]TAAGCTGAGCGTGTTGCATATTCAC

Phenotype

MIM: 616587 MIM: 182180

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM118B PubMed Links

Gene Details

Gene

FAM118B

Gene Name

family with sequence similarity 118 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024556.3	707	Missense Mutation	CAT,CGT	H198R	NP_078832.1
XM_005271665.3	707	Missense Mutation	CAT,CGT	H198R	XP_005271722.1
XM_011542977.2	707	Missense Mutation	CAT,CGT	H198R	XP_011541279.1
XM_011542978.2	707	Missense Mutation	CAT,CGT	H43R	XP_011541280.1
XM_017018285.1	707	Missense Mutation	CAT,CGT	H198R	XP_016873774.1
XM_017018286.1	707	Missense Mutation	CAT,CGT	H43R	XP_016873775.1

Gene

SRPRA

Gene Name

SRP receptor alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177842.1	707	Intron			NP_001171313.1
NM_003139.3	707	Intron			NP_003130.2
XM_017018179.1	707	Intron			XP_016873668.1

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