Product Details

SNP ID

rs61742074

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27446270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTCCCAGCTCACCTTGGCAGCA[A/G]TGCCTGCTTCATAGAAGGCTTTGTC

Phenotype

MIM: 607386 MIM: 606010

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IFT172 PubMed Links

Gene Details

Gene

IFT172

Gene Name

intraflagellar transport 172

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015662.2	4929	Missense Mutation	ACT,ATT	T1582I	NP_056477.1
XM_005264254.1	4929	Missense Mutation	ACT,ATT	T1560I	XP_005264311.1
XM_006711986.3	4929	Missense Mutation	ACT,ATT	T1561I	XP_006712049.1
XM_006711987.1	4929	Missense Mutation	ACT,ATT	T1582I	XP_006712050.1
XM_011532757.2	4929	Missense Mutation	ACT,ATT	T1355I	XP_011531059.1
XM_011532758.1	4929	Intron			XP_011531060.1
XM_011532759.2	4929	Missense Mutation	ACT,ATT	T1062I	XP_011531061.1
XM_011532760.2	4929	Missense Mutation	ACT,ATT	T937I	XP_011531062.1
XM_017003790.1	4929	Missense Mutation	ACT,ATT	T1539I	XP_016859279.1
XM_017003791.1	4929	Missense Mutation	ACT,ATT	T1355I	XP_016859280.1
XM_017003792.1	4929	Intron			XP_016859281.1
XM_017003793.1	4929	Missense Mutation	ACT,ATT	T961I	XP_016859282.1
XM_017003794.1	4929	Missense Mutation	ACT,ATT	T961I	XP_016859283.1
XM_017003795.1	4929	Missense Mutation	ACT,ATT	T893I	XP_016859284.1

Gene

KRTCAP3

Gene Name

keratinocyte associated protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168364.1	4929	Intron			NP_001161836.1
NM_001321325.1	4929	Intron			NP_001308254.1
NM_173853.3	4929	Intron			NP_776252.2

Gene

NRBP1

Gene Name

nuclear receptor binding protein 1

There are no transcripts associated with this gene.

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