Product Details

SNP ID

rs147953306

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:15779117 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGGATCTTCAAAACCCATCACAA[C/G]TGCAGTCCCTTCTACGTACATGACC

Phenotype

MIM: 611649

Polymorphism

C/G, 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	1433	Missense Mutation	CTT,GTT	L232V	NP_001305259.1
NM_024948.3	1433	Missense Mutation	CTT,GTT	L405V	NP_079224.1
XM_005252600.2	1433	Missense Mutation	CTT,GTT	L232V	XP_005252657.1
XM_005252602.2	1433	Missense Mutation	CTT,GTT	L232V	XP_005252659.1
XM_006717508.2	1433	Missense Mutation	CTT,GTT	L378V	XP_006717571.1
XM_011519690.2	1433	Intron			XP_011517992.1
XM_011519691.2	1433	Intron			XP_011517993.1
XM_011519693.1	1433	Missense Mutation	CTT,GTT	L258V	XP_011517995.1
XM_011519694.1	1433	Missense Mutation	CTT,GTT	L232V	XP_011517996.1
XM_017016671.1	1433	Intron			XP_016872160.1
XM_017016672.1	1433	Missense Mutation	CTT,GTT	L258V	XP_016872161.1
XM_017016673.1	1433	Missense Mutation	CTT,GTT	L232V	XP_016872162.1
XM_017016674.1	1433	Missense Mutation	CTT,GTT	L205V	XP_016872163.1
XM_017016675.1	1433	Missense Mutation	CTT,GTT	L205V	XP_016872164.1
XM_017016676.1	1433	Missense Mutation	CTT,GTT	L205V	XP_016872165.1

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