Product Details

SNP ID

rs143010630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:20011024 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACTCACTGGTGAAAATTCCGGGA[G/T]AGAGATAAGCTCTTCTTTTGAAACA

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MAP7D2 PubMed Links

Gene Details

Gene

MAP7D2

Gene Name

MAP7 domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168465.1	1990	Missense Mutation	ATC,CTC	I701L	NP_001161937.1
NM_001168466.1	1990	Missense Mutation	ATC,CTC	I615L	NP_001161938.1
NM_001168467.1	1990	Missense Mutation	ATC,CTC	I608L	NP_001161939.1
NM_152780.3	1990	Missense Mutation	ATC,CTC	I660L	NP_689993.2
XM_005274478.2	1990	Missense Mutation	ATC,CTC	I685L	XP_005274535.1
XM_005274479.2	1990	Missense Mutation	ATC,CTC	I674L	XP_005274536.1
XM_005274480.3	1990	Missense Mutation	ATC,CTC	I652L	XP_005274537.1
XM_006724481.2	1990	Missense Mutation	ATC,CTC	I734L	XP_006724544.1
XM_006724482.2	1990	Missense Mutation	ATC,CTC	I693L	XP_006724545.1
XM_011545483.1	1990	Missense Mutation	ATC,CTC	I723L	XP_011543785.1
XM_011545484.1	1990	Missense Mutation	ATC,CTC	I690L	XP_011543786.1
XM_011545485.1	1990	Missense Mutation	ATC,CTC	I679L	XP_011543787.1
XM_011545486.2	1990	Intron			XP_011543788.1
XM_017029393.1	1990	Missense Mutation	ATC,CTC	I682L	XP_016884882.1
XM_017029394.1	1990	Missense Mutation	ATC,CTC	I649L	XP_016884883.1
XM_017029395.1	1990	Missense Mutation	ATC,CTC	I641L	XP_016884884.1
XM_017029396.1	1990	Missense Mutation	ATC,CTC	I638L	XP_016884885.1
XM_017029397.1	1990	Missense Mutation	ATC,CTC	I630L	XP_016884886.1
XM_017029398.1	1990	Intron			XP_016884887.1

Gene

MIR23C

Gene Name

microRNA 23c

There are no transcripts associated with this gene.

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