Product Details

SNP ID

rs202197693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:153992986 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACGTCTCCATTCTTCAATGTTCT[A/G]ACAAAGGTTTCTGGCCCTGCAGCTC

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM114A2 PubMed Links

Gene Details

Gene

FAM114A2

Gene Name

family with sequence similarity 114 member A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317993.1	1604	Missense Mutation	TCA,TTA	S503L	NP_001304922.1
NM_001317994.1	1604	Missense Mutation	TCA,TTA	S503L	NP_001304923.1
NM_001317995.1	1604	Missense Mutation	TCA,TTA	S433L	NP_001304924.1
NM_018691.3	1604	Missense Mutation	TCA,TTA	S503L	NP_061161.2
XM_005268360.4	1604	Missense Mutation	TCA,TTA	S503L	XP_005268417.1
XM_005268361.4	1604	Missense Mutation	TCA,TTA	S503L	XP_005268418.1
XM_011537540.2	1604	Missense Mutation	TCA,TTA	S503L	XP_011535842.1
XM_011537541.2	1604	Missense Mutation	TCA,TTA	S503L	XP_011535843.1
XM_011537542.2	1604	Missense Mutation	TCA,TTA	S503L	XP_011535844.1
XM_017008967.1	1604	Missense Mutation	TCA,TTA	S503L	XP_016864456.1
XM_017008968.1	1604	Missense Mutation	TCA,TTA	S503L	XP_016864457.1

View Full Product Details