Product Details

SNP ID

rs147739827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:75066790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGCTAGTTCTTGTATTAGATCTT[C/T]ATATACTTGCAAAAAGAGGTCCTCT

Phenotype

MIM: 608704

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NMRK1 PubMed Links

Gene Details

Gene

NMRK1

Gene Name

nicotinamide riboside kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127603.1	1705	Missense Mutation	AAA,GAA	K159E	NP_001121075.1
NM_017881.2	1705	Missense Mutation	AAA,GAA	K183E	NP_060351.1
XM_006717162.1	1705	Missense Mutation	AAA,GAA	K187E	XP_006717225.1
XM_006717163.2	1705	Missense Mutation	AAA,GAA	K183E	XP_006717226.1
XM_011518817.1	1705	Missense Mutation	AAA,GAA	K187E	XP_011517119.1
XM_011518818.1	1705	Missense Mutation	AAA,GAA	K187E	XP_011517120.1
XM_011518819.2	1705	Missense Mutation	AAA,GAA	K163E	XP_011517121.1
XM_017014868.1	1705	Missense Mutation	AAA,GAA	K187E	XP_016870357.1
XM_017014869.1	1705	Missense Mutation	AAA,GAA	K187E	XP_016870358.1
XM_017014870.1	1705	Missense Mutation	AAA,GAA	K183E	XP_016870359.1
XM_017014871.1	1705	Missense Mutation	AAA,GAA	K163E	XP_016870360.1
XM_017014872.1	1705	Missense Mutation	AAA,GAA	K163E	XP_016870361.1
XM_017014873.1	1705	Missense Mutation	AAA,GAA	K163E	XP_016870362.1
XM_017014874.1	1705	Missense Mutation	AAA,GAA	K159E	XP_016870363.1

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