Product Details

SNP ID

rs146242304

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81904870 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCGCGCTCCCCCAGGGGCTGTGCC[A/G]CCTGCTGCCTGGCAGCCTCCAGGAA

Phenotype

MIM: 614534 MIM: 607996 MIM: 602679 MIM: 606212

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANAPC11 PubMed Links

Gene Details

Gene

ANAPC11

Gene Name

anaphase promoting complex subunit 11

There are no transcripts associated with this gene.

Gene

NPB

Gene Name

neuropeptide B

There are no transcripts associated with this gene.

Gene

PCYT2

Gene Name

phosphate cytidylyltransferase 2, ethanolamine

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184917.2	1539	Missense Mutation	GCG,GTG	A396V	NP_001171846.1
NM_001256433.2	1539	Missense Mutation	GCG,GTG	A324V	NP_001243362.1
NM_001256434.2	1539	Missense Mutation	GCG,GTG	A337V	NP_001243363.1
NM_001256435.2	1539	Missense Mutation	GCG,GTG	A300V	NP_001243364.1
NM_001282203.1	1539	Missense Mutation	GCG,GTG	A300V	NP_001269132.1
NM_001282204.1	1539	Missense Mutation	GCG,GTG	A346V	NP_001269133.1
NM_002861.4	1539	Missense Mutation	GCG,GTG	A378V	NP_002852.1
XM_005256386.3	1539	Missense Mutation	GCG,GTG	A364V	XP_005256443.1
XM_005256387.3	1539	Missense Mutation	GCG,GTG	A364V	XP_005256444.1
XM_006722287.3	1539	Missense Mutation	GCG,GTG	A374V	XP_006722350.1
XM_017024910.1	1539	Missense Mutation	GCG,GTG	A356V	XP_016880399.1
XM_017024911.1	1539	Missense Mutation	GCG,GTG	A346V	XP_016880400.1
XM_017024912.1	1539	Missense Mutation	GCG,GTG	A209V	XP_016880401.1

Gene

SIRT7

Gene Name

sirtuin 7

There are no transcripts associated with this gene.

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