Product Details

SNP ID

rs200761348

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:42417880 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGCCCAGCCACAGGGACGGTCA[C/T]GAACCAGGCCACGAAGATGTTCCGA

Phenotype

MIM: 158378

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC20A2 PubMed Links

Gene Details

Gene

SLC20A2

Gene Name

solute carrier family 20 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257180.1	2314	Missense Mutation	ATG,GTG	M628V	NP_001244109.1
NM_001257181.1	2314	Missense Mutation	ATG,GTG	M628V	NP_001244110.1
NM_006749.4	2314	Missense Mutation	ATG,GTG	M628V	NP_006740.1
XM_005273613.3	2314	Missense Mutation	ATG,GTG	M628V	XP_005273670.1
XM_005273615.3	2314	UTR 3			XP_005273672.1
XM_006716390.3	2314	Missense Mutation	ATG,GTG	M581V	XP_006716453.1
XM_006716391.3	2314	Missense Mutation	ATG,GTG	M491V	XP_006716454.1
XM_017013748.1	2314	Missense Mutation	ATG,GTG	M628V	XP_016869237.1
XM_017013749.1	2314	Missense Mutation	ATG,GTG	M581V	XP_016869238.1
XM_017013750.1	2314	Missense Mutation	ATG,GTG	M491V	XP_016869239.1
XM_017013751.1	2314	Missense Mutation	ATG,GTG	M491V	XP_016869240.1
XM_017013752.1	2314	Missense Mutation	ATG,GTG	M491V	XP_016869241.1

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