Product Details

SNP ID

rs9614646

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45345498 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATCAGCGCGTCGGCTCTGGAATA[C/G]AACTCTTCTTTTAGGGAGATGACTA

Phenotype

MIM: 608685

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAM118A PubMed Links

Gene Details

Gene

FAM118A

Gene Name

family with sequence similarity 118 member A

There are no transcripts associated with this gene.

Gene

SMC1B

Gene Name

structural maintenance of chromosomes 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291501.1	3519	Missense Mutation	TTC,TTG	F1115L	NP_001278430.1
NM_148674.4	3519	Missense Mutation	TTC,TTG	F1189L	NP_683515.4
XM_011530144.2	3519	Missense Mutation	TTC,TTG	F1148L	XP_011528446.1
XM_011530145.2	3519	UTR 3			XP_011528447.1

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