Product Details

SNP ID

rs148896304

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:126256697 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAAATCTGACCTAGAACATTTCA[C/T]GCTGGTTCGGAGAGGAGACGTAGAT

Phenotype

MIM: 616587 MIM: 182180

Polymorphism

C/T, 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	941	Missense Mutation	ACG,ATG	T276M	NP_078832.1
XM_005271665.3	941	Missense Mutation	ACG,ATG	T276M	XP_005271722.1
XM_011542977.2	941	Missense Mutation	ACG,ATG	T276M	XP_011541279.1
XM_011542978.2	941	Missense Mutation	ACG,ATG	T121M	XP_011541280.1
XM_017018285.1	941	Missense Mutation	ACG,ATG	T276M	XP_016873774.1
XM_017018286.1	941	Missense Mutation	ACG,ATG	T121M	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	941	Intron			NP_001171313.1
NM_003139.3	941	Intron			NP_003130.2
XM_017018179.1	941	UTR 3			XP_016873668.1

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