Product Details

SNP ID

rs139961528

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6541629 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCCGGTTCATGTCGTTCTTGGCC[A/G]TGGCCAACTCCAGCTGTGGTGGGGC

Phenotype

MIM: 138400 MIM: 610495 MIM: 615638

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GAPDH PubMed Links

Gene Details

Gene

GAPDH

Gene Name

glyceraldehyde-3-phosphate dehydrogenase

There are no transcripts associated with this gene.

Gene

IFFO1

Gene Name

intermediate filament family orphan 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039670.2	1806	Missense Mutation	ACG,ATG	T490M	NP_001034759.1
NM_001193457.1	1806	Missense Mutation	ACG,ATG	T498M	NP_001180386.1
NM_080730.4	1806	Missense Mutation	ACG,ATG	T489M	NP_542768.2
XM_006718975.3	1806	Missense Mutation	ACG,ATG	T489M	XP_006719038.1
XM_006718976.3	1806	Missense Mutation	ACG,ATG	T487M	XP_006719039.1
XM_006718977.3	1806	Missense Mutation	ACG,ATG	T486M	XP_006719040.1
XM_006718981.3	1806	Missense Mutation	ACG,ATG	T182M	XP_006719044.1
XM_011520947.2	1806	Missense Mutation	ACG,ATG	T578M	XP_011519249.1
XM_011520948.2	1806	Missense Mutation	ACG,ATG	T577M	XP_011519250.1
XM_011520949.2	1806	Missense Mutation	ACG,ATG	T575M	XP_011519251.1
XM_011520952.2	1806	Missense Mutation	ACG,ATG	T270M	XP_011519254.1
XM_017019169.1	1806	Intron			XP_016874658.1
XM_017019170.1	1806	Missense Mutation	ACG,ATG	T515M	XP_016874659.1
XM_017019171.1	1806	Missense Mutation	ACG,ATG	T488M	XP_016874660.1
XM_017019172.1	1806	Missense Mutation	ACG,ATG	T271M	XP_016874661.1
XM_017019173.1	1806	Missense Mutation	ACG,ATG	T268M	XP_016874662.1

Gene

NCAPD2

Gene Name

non-SMC condensin I complex subunit D2

There are no transcripts associated with this gene.

View Full Product Details