Product Details

SNP ID

rs201799787

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20336678 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGATGGGACCCAAGTTCAGGACA[C/T]GGGATTGATCTATGACACTCCCACT

Phenotype

MIM: 602977 MIM: 191845

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GP2 PubMed Links

Gene Details

Gene

GP2

Gene Name

glycoprotein 2

There are no transcripts associated with this gene.

Gene

UMOD

Gene Name

uromodulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008389.2	2219	Missense Mutation	CAT,CGT	H597R	NP_001008390.1
NM_001278614.1	2219	Missense Mutation	CAT,CGT	H630R	NP_001265543.1
NM_003361.3	2219	Missense Mutation	CAT,CGT	H597R	NP_003352.2
XM_011545934.1	2219	Missense Mutation	CAT,CGT	H672R	XP_011544236.1
XM_011545935.1	2219	Missense Mutation	CAT,CGT	H644R	XP_011544237.1
XM_011545936.1	2219	Missense Mutation	CAT,CGT	H644R	XP_011544238.1
XM_011545937.1	2219	Missense Mutation	CAT,CGT	H644R	XP_011544239.1
XM_011545938.1	2219	Missense Mutation	CAT,CGT	H644R	XP_011544240.1
XM_011545940.1	2219	Missense Mutation	CAT,CGT	H693R	XP_011544242.1
XM_017023641.1	2219	Missense Mutation	CAT,CGT	H625R	XP_016879130.1

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