Product Details

SNP ID

rs143762840

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:15786642 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGATCTAATTTATTCTTCATGAG[A/T]TTTATACTACGGGGAGAAAGAAGAA

Phenotype

MIM: 611649

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

FAM188A PubMed Links

Gene Details

Gene

FAM188A

Gene Name

family with sequence similarity 188 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318330.1	1246	Missense Mutation	AAA,AAT	K172N	NP_001305259.1
NM_024948.3	1246	Missense Mutation	AAA,AAT	K345N	NP_079224.1
XM_005252600.2	1246	Missense Mutation	AAA,AAT	K172N	XP_005252657.1
XM_005252602.2	1246	Missense Mutation	AAA,AAT	K172N	XP_005252659.1
XM_006717508.2	1246	Missense Mutation	AAA,AAT	K318N	XP_006717571.1
XM_011519690.2	1246	Missense Mutation	AAA,AAT	K345N	XP_011517992.1
XM_011519691.2	1246	Missense Mutation	AAA,AAT	K345N	XP_011517993.1
XM_011519693.1	1246	Missense Mutation	AAA,AAT	K198N	XP_011517995.1
XM_011519694.1	1246	Missense Mutation	AAA,AAT	K172N	XP_011517996.1
XM_017016671.1	1246	Missense Mutation	AAA,AAT	K318N	XP_016872160.1
XM_017016672.1	1246	Missense Mutation	AAA,AAT	K198N	XP_016872161.1
XM_017016673.1	1246	Missense Mutation	AAA,AAT	K172N	XP_016872162.1
XM_017016674.1	1246	Missense Mutation	AAA,AAT	K145N	XP_016872163.1
XM_017016675.1	1246	Missense Mutation	AAA,AAT	K145N	XP_016872164.1
XM_017016676.1	1246	Missense Mutation	AAA,AAT	K145N	XP_016872165.1

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