Product Details

SNP ID

rs200406171

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:494980 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTGTTGCTGAGGTCCAGCTCAC[A/G]CAGGCTGTGGTTGGCCAACAGGGTT

Phenotype

MIM: 612793 MIM: 173320

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PTDSS2 PubMed Links

Gene Details

Gene

PTDSS2

Gene Name

phosphatidylserine synthase 2

There are no transcripts associated with this gene.

Gene

RNH1

Gene Name

ribonuclease/angiogenin inhibitor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002939.3	1341	Missense Mutation	CGT,TGT	R401C	NP_002930.2
NM_203383.1	1341	Missense Mutation	CGT,TGT	R401C	NP_976317.1
NM_203384.1	1341	Missense Mutation	CGT,TGT	R401C	NP_976318.1
NM_203385.1	1341	Missense Mutation	CGT,TGT	R401C	NP_976319.1
NM_203386.2	1341	Missense Mutation	CGT,TGT	R401C	NP_976320.1
NM_203387.2	1341	Missense Mutation	CGT,TGT	R401C	NP_976321.1
NM_203388.2	1341	Missense Mutation	CGT,TGT	R401C	NP_976322.1
NM_203389.2	1341	Missense Mutation	CGT,TGT	R401C	NP_976323.1
XM_011520255.1	1341	Missense Mutation	CGT,TGT	R401C	XP_011518557.1
XM_011520257.2	1341	Missense Mutation	CGT,TGT	R401C	XP_011518559.1
XM_011520258.2	1341	Missense Mutation	CGT,TGT	R401C	XP_011518560.1
XM_011520259.2	1341	Missense Mutation	CGT,TGT	R401C	XP_011518561.1
XM_011520260.2	1341	Missense Mutation	CGT,TGT	R401C	XP_011518562.1
XM_011520261.2	1341	Missense Mutation	CGT,TGT	R401C	XP_011518563.1
XM_011520262.2	1341	Missense Mutation	CGT,TGT	R401C	XP_011518564.1
XM_011520263.1	1341	Missense Mutation	CGT,TGT	R401C	XP_011518565.1
XM_017018106.1	1341	Missense Mutation	CGT,TGT	R401C	XP_016873595.1

View Full Product Details